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Contents

1. A catalog of the mouse gut metagenome ... 19 Xiao, L (Xiao, Liang); Feng, Q (Feng, Qiang); Liang, SS (Liang, Suisha); Sonne,

SB (Sonne, Si Brask); Xia, ZK (Xia, Zhongkui); Qiu, XM (Qiu, Xinmin); Li, XP (Li, Xiaoping); Long, H (Long, Hua); Zhang, JF (Zhang, Jianfeng); Zhang, DY

2. A comparison of isolated circulating tumor cells and tissue biopsies using whole- genome sequencing in prostate cancer ... 21

Jiang, RZ (Jiang, Runze); Lu, YT (Lu, Yi-Tsung); Ho, H (Ho, Hao); Li, B (Li, Bo);

Chen, JF (Chen, Jie-Fu); Lin, M (Lin, Millicent); Li, FQ (Li, Fuqiang); Wu, K (Wu, Kui); Wu, HJ (Wu, Hanjie); Lichterman, J (Lichterman, Jake); et. al

3. A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease ... 23

Elosua, R (Elosua, Roberto); Epstein, SE (Epstein, Stephen E.); Esko, T (Esko, Tonu); Feitosa, MF (Feitosa, Mary F.); Franco, OH (Franco, Oscar H.);

Franzosi, MG (Franzosi, Maria Grazia); Granger, CB (Granger, Christopher B.) et.al

4. A global reference for human genetic variation ... 26 Altshuler, DM (Altshuler, David M.); Durbin, RM (Durbin, Richard M.);

Abecasis, GR (Abecasis, Goncalo R.); Bentley, DR (Bentley, David R.);

Chakravarti, A (Chakravarti, Aravinda); Clark, AG (Clark, Andrew G.);

Donnelly, P (Donnelly, Peter); Eichler, EE (Eichler, Evan E.); et. al

5. Case of Sjogren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis ... 34

Gaboon, NEA (Gaboon, Nagwa E. A.); Jelani, M (Jelani, Musharraf);

Almramhi, MM (Almramhi, Mona M.); Mohamoud, HSA (Mohamoud, Hussein S. A.); Al-Aama, JY (Al-Aama, Jumana Y.)

6. Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia The Role of Left Cardiac Sympathetic Denervation ... 35

De Ferrari, GM (De Ferrari, Gaetano M.); Dusi, V (Dusi, Veronica); Spazzolini, C (Spazzolini, Carla); Bos, JM (Bos, J. Martijn); Abrams, DJ (Abrams, Dominic J.); Berul, CI (Berul, Charles I.); Crotti, L (Crotti, Lia); Davis, AM (Davis,

Andrew M.); Eldar, M (Eldar, Michael); Kharlap, M (Kharlap, Maria); Khoury, A (Khoury, Asaad); Krahn, AD (Krahn, Andrew D.); Leenhardt, A (Leenhardt, Antoine); Moir, CR (Moir, Christopher R.); Odero, A (Odero, Attilio); Olde Nordkamp, L (Olde Nordkamp, Louise); Paul, T (Paul, Thomas); Roses i

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Noguer, F (Roses i Noguer, Ferran); Shkolnikova, M (Shkolnikova, Maria);

Till, J (Till, Jan); Wilde, AAM (Wilde, Arthur A. M.); Ackerman, MJ (Ackerman, Michael J.); Schwartz, PJ (Schwartz, Peter J.) 35

7. Comparison of variations detection between whole-genome amplification methods used in single-cell resequencing... 37

Hou, Y (Hou, Yong); Wu, K (Wu, Kui); Shi, XL (Shi, Xulian); Li, FQ (Li, Fuqiang);

Song, LT (Song, Luting); Wu, HJ (Wu, Hanjie); Dean, M (Dean, Michael); Li, GB (Li, Guibo); Tsang, S (Tsang, Shirley); Jiang, RZ (Jiang, Runze); Zhang, XL (Zhang, Xiaolong); Li, B (Li, Bo); Liu, G (Liu, Geng); Bedekar, N (Bedekar, Niharika); Lu, N (Lu, Na); Xie, GY (Xie, Guoyun); Liang, H (Liang, Han); Chang, L (Chang, Liao); Wang, T (Wang, Ting); Chen, JH (Chen, Jianghao); Li, YR (Li, Yingrui); Zhang, XQ (Zhang, Xiuqing); Yang, HM (Yang, Huanming); Xu, X (Xu, Xun); Wang, L (Wang, Ling); Wang, J (Wang, Jun) 37

8. Concise Review: Cardiac Disease Modeling Using Induced Pluripotent Stem Cells . 39 Yang, CB (Yang, Chunbo); Al-Aama, J (Al-Aama, Jumana); Stojkovic, M

(Stojkovic, Miodrag); Keavney, B (Keavney, Bernard); Trafford, A (Trafford, Andrew); Lako, M (Lako, Majlinda); Armstrong, L (Armstrong, Lyle) 39

9. Consumption of meat is associated with higher fasting glucose and insulin concentrations regardless of glucose and insulin genetic risk scores: a meta- analysis of 50,345 Caucasians... 41

Fretts, AM (Fretts, Amanda M.); Follis, JL (Follis, Jack L.); Nettleton, JA (Nettleton, Jennifer A.); Lemaitre, RN (Lemaitre, Rozenn N.); Ngwa, JS (Ngwa, Julius S.); Wojczynski, MK (Wojczynski, Mary K.);

(Borecki, Ingrid B.); Franks, PW (Franks, Paul W.); Arnett, DK (Arnett, Donna K.); Nalls, MA (Nalls, Mike A.); Eriksson, JG (Eriksson, Johan G.); Orho-

Melander, M (Orho-Melander, Marju); Franco, OH (Franco, Oscar H.);

Lehtimaki, T (Lehtimaeki, Terho); Dedoussis, GV (Dedoussis, George V.);

Meigs, JB (Meigs, James B.); Siscovick, DS (Siscovick, David S.) 41

10. De novo assembly of a haplotype-resolved human genome ... 43 Cao, HZ (Cao, Hongzhi); Wu, HL (Wu, Honglong); Luo, RB (Luo, Ruibang);

Huang, SJ (Huang, Shujia); Sun, YH (Sun, Yuhui); Tong, X (Tong, Xin); Xie, YL (Xie, Yinlong); Liu, BH (Liu, Binghang); Yang, HL (Yang, Hailong); Zheng, HC (Zheng, Hancheng); Li, J (Li, Jian); Li, B (Li, Bo); Wang, Y (Wang, Yu); Yang, F (Yang, Fang); Sun, P (Sun, Peng); Liu, SY (Liu, Siyang); Gao, P (Gao, Peng);

Huang, HD (Huang, Haodong); Sun, J (Sun, Jing); Chen, D (Chen, Dan); He, GZ (He, Guangzhu); Huang, WH (Huang, Weihua); Huang, Z (Huang, Zheng); Li, Y (Li, Yue); Tellier, LCAM (Tellier, Laurent C. A. M.); Liu, X (Liu, Xiao); Feng, Q (Feng, Qiang); Xu, X (Xu, Xun); Zhang, XQ (Zhang, Xiuqing); Bolund, L (Bolund, Lars); Krogh, A (Krogh, Anders); Kristiansen, K (Kristiansen, Karsten); Drmanac, R (Drmanac, Radoje); Drmanac, S (Drmanac, Snezana);

Nielsen, R (Nielsen, Rasmus); Li, SG (Li, Songgang); Wang, J (Wang, Jian);

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Yang, HM (Yang, Huanming); Li, YR (Li, Yingrui); Wong, GKS (Wong, Gane Ka- Shu); Wang, J (Wang, Jun)

11. Disentangling type 2 diabetes and metformin treatment signatures in the human gut microbiota ... 45

Forslund, K (Forslund, Kristoffer); Hildebrand, F (Hildebrand, Falk); Nielsen, T (Nielsen, Trine); Falony, G (Falony, Gwen); Le Chatelier, E (Le Chatelier, Emmanuelle); Sunagawa, S (Sunagawa, Shinichi); Prifti, E (Prifti, Edi); Vieira- Silva, S (Vieira-Silva, Sara); Gudmundsdottir, V (Gudmundsdottir, Valborg);

Pedersen, HK (Pedersen, Helle Krogh); Arumugam, M (Arumugam,

Manimozhiyan); Kristiansen, K (Kristiansen, Karsten); Voigt, AY (Voigt, Anita Yvonne); Vestergaard, H (Vestergaard, Henrik); Hercog, R (Hercog, Rajna);

Costea, PI (Costea, Paul Igor); Kultima, JR (Kultima, Jens Roat); Li, JH (Li, Junhua); Jorgensen, T (Jorgensen, Torben); Levenez, F (Levenez, Florence);

Dore, J (Dore, Joel); Nielsen, HB (Nielsen, H. Bjorn); Brunak, S (Brunak, Soren); Raes, J (Raes, Jeroen); Hansen, T (Hansen, Torben); Wang, J (Wang, Jun); Ehrlich, SD (Ehrlich, S. Dusko); Bork, P (Bork, Peer); Pedersen, O (Pedersen, Oluf)

12. DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels ... 47 Pfeiffer, L (Pfeiffer, Liliane); Wahl, S (Wahl, Simone); Pilling, LC (Pilling, Luke C.); Reischl, E (Reischl, Eva); Sandling, JK (Sandling, Johanna K.); Kunze, S (Kunze, Sonja); Holdt, LM (Holdt, Lesca M.); Kretschmer, A (Kretschmer, Anja); Schramm, K (Schramm, Katharina); Adamski, J (Adamski, Jerzy);

Klopp, N (Klopp, Norman); Illig, T (Illig, Thomas); Hedman, AK (Hedman, Asa K.); Roden, M (Roden, Michael); Hernandez, DG (Hernandez, Dena G.);

Singleton, AB (Singleton, Andrew B.); Thasler, WE (Thasler, Wolfgang E.);

Grallert, H (Grallert, Harald); Gieger, C (Gieger, Christian); Herder, C (Herder, Christian); Teupser, D (Teupser, Daniel); Meisinger, C (Meisinger, Christa);

Spector, TD (Spector, Timothy D.); Kronenberg, F (Kronenberg, Florian);

Prokisch, H (Prokisch, Holger); Melzer, D (Melzer, David); Peters, A (Peters, Annette); Deloukas, P (Deloukas, Panos); Ferrucci, L (Ferrucci, Luigi);

Waldenberger, M (Waldenberger, Melanie)

13. Dynamics and Stabilization of the Human Gut Microbiome during the First Year of Life ... 49

Backhed, F (Backhed, Fredrik); Roswall, J (Roswall, Josefine); Peng, YQ (Peng, Yangqing); Feng, Q (Feng, Qiang); Jia, HJ (Jia, Huijue); Kovatcheva-Datchary, P (Kovatcheva-Datchary, Petia); Li, Y (Li, Yin); Xia, Y (Xia, Yan); Xie, HL (Xie, Hailiang); Zhong, HZ (Zhong, Huanzi); Khan, MT (Khan, Muhammad

Tanweer); Zhang, JF (Zhang, Jianfeng); Li, JH (Li, Junhua); Xiao, L (Xiao, Liang); Al-Aama, J (Al-Aama, Jumana); Zhang, DY (Zhang, Dongya); Lee, YS (Lee, Ying Shiuan); Kotowska, D (Kotowska, Dorota); Colding, C (Colding, Camilla); Tremaroli, V (Tremaroli, Valentina); Yin, Y (Yin, Ye); Bergman, S (Bergman, Stefan); Xu, X (Xu, Xun); Madsen, L (Madsen, Lise); Kristiansen, K

5

(Kristiansen, Karsten); Dahlgren, J (Dahlgren, Jovanna); Jun, W (Jun, Wang) 49

14. Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci ... 50

Demerath, EW (Demerath, Ellen W.); Guan, WH (Guan, Weihua); Grove, ML (Grove, Megan L.); Aslibekyan, S (Aslibekyan, Stella); Mendelson, M

(Mendelson, Michael); Zhou, YH (Zhou, Yi-Hui); Hedman, AK (Hedman, Asa K.); Sandling, JK (Sandling, Johanna K.); Li, LA (Li, Li-An); Irvin, MR (Irvin, Marguerite R.); Zhi, DG (Zhi, Degui); Deloukas, P (Deloukas, Panos); Liang, LM (Liang, Liming); Liu, CY (Liu, Chunyu); Bressler, J (Bressler, Jan); Spector, TD (Spector, Tim D.); North, K (North, Kari); Li, Y (Li, Yun); Absher, DM (Absher, Devin M.); Levy, D (Levy, Daniel); Arnett, DK (Arnett, Donna K.);

Fornage, M (Fornage, Myriam); Pankow, JS (Pankow, James S.); Boerwinkle, E (Boerwinkle, Eric) 50

15. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3 ... 52

Ahmed, S (Ahmed, Saleem); Jelani, M (Jelani, Musharraf); Alrayes, N (Alrayes, Nuha); Mohamoud, HSA (Mohamoud, Hussein Sheikh Ali);

Almramhi, MM (Almramhi, Mona Mohammad); Anshasi, W (Anshasi, Wasim); Ahmed, NAB (Ahmed, Naushad Ali Basheer); Wang, J (Wang, Jun);

Nasir, J (Nasir, Jamal); Al-Aama, JY (Al-Aama, Jumana Yousuf) 52

16. Genetic studies of body mass index yield new insights for obesity biology... 53 Locke, AE (Locke, Adam E.); Kahali, B (Kahali, Bratati); Berndt, SI (Berndt,

Sonja I.); Justice, AE (Justice, Anne E.); Pers, TH (Pers, Tune H.); Felix, R (Day, Felix R.); Powell, C (Powell, Corey); Boyd, HA (Boyd, Heather A.);

Bruinenberg, M (Bruinenberg, Marcel);

17. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption ... 59

Cornelis, MC (Cornelis, M. C.); Byrne, EM (Byrne, E. M.); Esko, T (Esko, T.);

Nalls, MA (Nalls, M. A.); Ganna, A (Ganna, A.); Paynter, N (Paynter, N.);

Monda, KL (Monda, K. L.); Amin, N (Amin, N.); Fischer, K (Fischer, K.);

Renstrom, F (Renstrom, F.); Ngwa, JS (Ngwa, J. S.); Huikari, V (Huikari, V.);

Cavadino, A (Cavadino, A.); Nolte, IM (Nolte, I. M.); Teumer, A (Teumer, A.);

Yu, K (Yu, K.); Marques-Vidal, P (Marques-Vidal, P.); Rawal, R (Rawal, R.);

Manichaikul, A (Manichaikul, A.); Wojczynski, MK (Wojczynski, M. K.); Vink, JM (Vink, J. M.); Zhao, JH (Zhao, J. H.); Burlutsky, G (Burlutsky, G.); Lahti, J (Lahti, J.); Mikkila, V (Mikkila, V.); Lemaitre, RN (Lemaitre, R. N.); Eriksson, J (Eriksson, J.); Musani, SK (Musani, S. K.); Tanaka, T (Tanaka, T.); Geller, F

6

(Geller, F.); Luan, J (Luan, J.); Hui, J (Hui, J.); Magi, R (Maegi, R.); Dimitriou, M (Dimitriou, M.); Garcia, ME (Garcia, M. E.); Ho, WK (Ho, W-K); Wright, MJ (Wright, M. J.); Rose, LM (Rose, L. M.); Magnusson, PKE (Magnusson, P. K.

E.); Pedersen, NL (Pedersen, N. L.); Couper, D (Couper, D.); Oostra, BA (Oostra, B. A.); Hofman, A (Hofman, A.); Ikram, MA (Ikram, M. A.); Tiemeier, HW (Tiemeier, H. W.); Uitterlinden, AG (Uitterlinden, A. G.); van Rooij, FJA (van Rooij, F. J. A.); Barroso, I (Barroso, I.); Johansson, I (Johansson, I.); Xue, L (Xue, L.); Kaakinen, M (Kaakinen, M.); Milani, L (Milani, L.); Power, C (Power, C.); Snieder, H (Snieder, H.); Stolk, RP (Stolk, R. P.); Baumeister, SE (Baumeister, S. E.); Biffar, R (Biffar, R.); Gu, F (Gu, F.); Bastardot, F

(Bastardot, F.); Kutalik, Z (Kutalik, Z.); Jacobs, DR (Jacobs, D. R., Jr.); Forouhi, NG (Forouhi, N. G.); Mihailov, E (Mihailov, E.); Lind, L (Lind, L.); Lindgren, C (Lindgren, C.); Michaelsson, K (Michaelsson, K.); Morris, A (Morris, A.);

Jensen, M (Jensen, M.); Khaw, KT (Khaw, K-T); Luben, RN (Luben, R. N.);

Wang, JJ (Wang, J. J.); Mannisto, S (Mannisto, S.); Perala, MM (Perala, M-M);

Kahonen, M (Kahonen, M.); Lehtimaki, T (Lehtimaki, T.); Viikari, J (Viikari, J.);

Mozaffarian, D (Mozaffarian, D.); Mukamal, K (Mukamal, K.); Psaty, BM (Psaty, B. M.); Doring, A (Doering, A.); Heath, AC (Heath, A. C.);

Montgomery, GW (Montgomery, G. W.); Dahmen, N (Dahmen, N.);

Carithers, T (Carithers, T.); Tucker, KL (Tucker, K. L.); Ferrucci, L (Ferrucci, L.);

Boyd, HA (Boyd, H. A.); Melbye, M (Melbye, M.); Treur, JL (Treur, J. L.);

Mellstrom, D (Mellstrom, D.); Hottenga, JJ (Hottenga, J. J.); Prokopenko, I (Prokopenko, I.); Tonjes, A (Toenjes, A.); Deloukas, P (Deloukas, P.); Kanoni, S (Kanoni, S.); Lorentzon, M (Lorentzon, M.); Houston, DK (Houston, D. K.);

Liu, Y (Liu, Y.); Danesh, J (Danesh, J.); Rasheed, A (Rasheed, A.); Mason, MA (Mason, M. A.); Zonderman, AB (Zonderman, A. B.); Franke, L (Franke, L.);

Kristal, BS (Kristal, B. S.); Karjalainen, J (Karjalainen, J.); Reed, DR (Reed, D.

R.); Westra, HJ (Westra, H-J); Evans, MK (Evans, M. K.); Saleheen, D (Saleheen, D.); Harris, TB (Harris, T. B.);

Dedoussis, G (Dedoussis, G.); Curhan, G (Curhan, G.); Stumvoll, M (Stumvoll, M.); Beilby, J (Beilby, J.); Pasquale, LR (Pasquale, L. R.); Feenstra, B

(Feenstra, B.); Bandinelli, S (Bandinelli, S.); Ordovas, JM (Ordovas, J. M.);

Chan, AT (Chan, A. T.); Peters, U (Peters, U.); Ohlsson, C (Ohlsson, C.);

Gieger, C (Gieger, C.); Martin, NG (Martin, N. G.); Waldenberger, M

(Waldenberger, M.); Siscovick, DS (Siscovick, D. S.); Raitakari, O (Raitakari, O.); Eriksson, JG (Eriksson, J. G.); Mitchell, P (Mitchell, P.); Hunter, DJ (Hunter, D. J.); Kraft, P (Kraft, P.); Rimm, EB (Rimm, E. B.); Boomsma, DI (Boomsma, D. I.); Borecki, IB (Borecki, I. B.); Loos, RJF (Loos, R. J. F.);

Wareham, NJ (Wareham, N. J.); Vollenweider, P (Vollenweider, P.);

Caporaso, N (Caporaso, N.); Grabe, HJ (Grabe, H. J.); Neuhouser, ML

(Neuhouser, M. L.); Wolffenbuttel, BHR (Wolffenbuttel, B. H. R.); Hu, FB (Hu, F. B.); Hypponen, E (Hyppoenen, E.); Jarvelin, MR (Jarvelin, M-R); Cupples, LA (Cupples, L. A.); Franks, PW (Franks, P. W.); Ridker, PM (Ridker, P. M.);

van Duijn, CM (van Duijn, C. M.); Heiss, G (Heiss, G.); Metspalu, A (Metspalu, A.); North, KE (North, K. E.); Ingelsson, E (Ingelsson, E.); Nettleton, JA

7

(Nettleton, J. A.); van Dam, RM (van Dam, R. M.); Chasman, DI (Chasman, D.

I.)

18. Genome-wide profiling of HPV integration in cervical cancer identifies clustered genomic hot spots and a potential microhomology-mediated integration mechanism ... 62

Hu, Z (Hu, Zheng); Zhu, D (Zhu, Da); Wang, W (Wang, Wei); Li, WY (Li, Weiyang); Jia, WL (Jia, Wenlong); Zeng, X (Zeng, Xi); Ding, WC (Ding, Wencheng); Yu, L (Yu, Lan); Wang, XL (Wang, Xiaoli); Wang, LM (Wang, Liming); Shen, H (Shen, Hui); Zhang, CL (Zhang, Changlin); Liu, HJ (Liu, Hongjie); Liu, X (Liu, Xiao); Zhao, Y (Zhao, Yi); Fang, XD (Fang, Xiaodong); Li, SC (Li, Shuaicheng); Chen, W (Chen, Wei); Tang, T (Tang, Tang); Fu, AS (Fu, Aisi); Wang, Z (Wang, Zou); Chen, G (Chen, Gang); Gao, QL (Gao, Qinglei); Li, S (Li, Shuang); Xi, L (Xi, Ling); Wang, CY (Wang, Changyu); Liao, SJ (Liao, Shujie); Ma, XY (Ma, Xiangyi); Wu, P (Wu, Peng); Li, K (Li, Kezhen); Wang, SX (Wang, Shixuan); Zhou, JF (Zhou, Jianfeng); Wang, J (Wang, Jun); Xu, X (Xu, Xun); Wang, H (Wang, Hui); Ma, D (Ma, Ding)

19. Genomic legacy of the African cheetah, Acinonyx jubatus ... 64 Dobrynin, P (Dobrynin, Pavel); Liu, SP (Liu, Shiping); Tamazian, G (Tamazian, Gaik); Xiong, ZJ (Xiong, Zijun); Yurchenko, AA (Yurchenko, Andrey A.);

Krasheninnikova, K (Krasheninnikova, Ksenia); Kliver, S (Kliver, Sergey);

Schmidt-Kuntzel, A (Schmidt-Kuentzel, Anne); Koepfli, KP (Koepfli, Klaus- Peter); Johnson, W (Johnson, Warren); Kuderna, LFK (Kuderna, Lukas F. K.);

Garcia-Perez, R (Garcia-Perez, Raquel); de Manuel, M (de Manuel, Marc);

Godinez, R (Godinez, Ricardo); Komissarov, A (Komissarov, Aleksey);

Makunin, A (Makunin, Alexey); Brukhin, V (Brukhin, Vladimir); Qiu, WL (Qiu, Weilin); Zhou, L (Zhou, Long); Li, F (Li, Fang); Yi, J (Yi, Jian); Driscoll, C

(Driscoll, Carlos); Antunes, A (Antunes, Agostinho); Oleksyk, TK (Oleksyk, Taras K.); Eizirik, E (Eizirik, Eduardo); Perelman, P (Perelman, Polina); Roelke, M (Roelke, Melody); Wildt, D (Wildt, David); Diekhans, M (Diekhans, Mark);

Marques-Bonet, T (Marques-Bonet, Tomas); Marker, L (Marker, Laurie);

JunWang, JB (Bhak, Jong); Wang, J (Wang, Jun); Zhang, GJ (Zhang, Guojie);

O'Brien, SJ (O'Brien, Stephen J.)

20. Genomic signatures of evolutionary transitions from solitary to group living ... 66 Kapheim, KM (Kapheim, Karen M.); Pan, HL (Pan, Hailin); Li, C (Li, Cai);

Salzberg, SL (Salzberg, Steven L.); Puiu, D (Puiu, Daniela); Magoc, T (Magoc, Tanja); Robertson, HM (Robertson, Hugh M.); Hudson, ME (Hudson,

Matthew E.); Venkat, A (Venkat, Aarti); Fischman, BJ (Fischman, Brielle J.);

Hernandez, A (Hernandez, Alvaro); Yandell, M (Yandell, Mark); Ence, D (Ence, Daniel); Holt, C (Holt, Carson); Yocum, GD (Yocum, George D.); Kemp, WP (Kemp, William P.); Bosch, J (Bosch, Jordi); Waterhouse, RM

(Waterhouse, Robert M.); Zdobnov, EM (Zdobnov, Evgeny M.); Stolle, E (Stolle, Eckart); Kraus, FB (Kraus, F. Bernhard); Helbing, S (Helbing, Sophie);

Moritz, RFA (Moritz, Robin F. A.); Glastad, KM (Glastad, Karl M.); Hunt, BG

8

(Hunt, Brendan G.); Goodisman, MAD (Goodisman, Michael A. D.); Hauser, F (Hauser, Frank); Grimmelikhuijzen, CJP (Grimmelikhuijzen, Cornelis J. P.);

Pinheiro, DG (Pinheiro, Daniel Guariz); Nunes, FMF (Franco Nunes, Francis Morais); Soares, MPM (Miranda Soares, Michelle Prioli); Tanaka, ED

(Tanaka, Erica Donato); Simoes, ZLP (Paulino Simoes, Zila Luz); Hartfelder, K (Hartfelder, Klaus); Evans, JD (Evans, Jay D.); Barribeau, SM (Barribeau, Seth M.); Johnson, RM (Johnson, Reed M.); Massey, JH (Massey, Jonathan H.);

Southey, BR (Southey, Bruce R.); Hasselmann, M (Hasselmann, Martin);

Hamacher, D (Hamacher, Daniel); Biewer, M (Biewer, Matthias); Kent, CF (Kent, Clement F.); Zayed, A (Zayed, Amro); Blatti, C (Blatti, Charles, III);

Sinha, S (Sinha, Saurabh); Johnston, JS (Johnston, J. Spencer); Hanrahan, SJ (Hanrahan, Shawn J.); Kocher, SD (Kocher, Sarah D.); Wang, J (Wang, Jun);

Robinson, GE (Robinson, Gene E.); Zhang, GJ (Zhang, Guojie)

21. Global gene expression profiling of brown to white adipose tissue transformation in sheep reveals novel transcriptional components linked to adipose remodeling ... 68

Basse, AL (Basse, Astrid L.); Dixen, K (Dixen, Karen); Yadav, R (Yadav, Rachita); Tygesen, MP (Tygesen, Malin P.); Qvortrup, K (Qvortrup, Klaus);

Kristiansen, K (Kristiansen, Karsten); Quistorff, B (Quistorff, Bjorn); Gupta, R (Gupta, Ramneek); Wang, J (Wang, Jun); Hansen, JB (Hansen, Jacob B.)

22. Gut microbiome development along the colorectal adenoma-carcinoma sequence ... 70

Feng, Q (Feng, Qiang); Liang, SS (Liang, Suisha); Jia, HJ (Jia, Huijue);

Stadlmayr, A (Stadlmayr, Andreas); Tang, LQ (Tang, Longqing); Lan, Z (Lan, Zhou); Zhang, DY (Zhang, Dongya); Xia, HH (Xia, Huihua); Xu, XY (Xu, Xiaoying); Jie, ZY (Jie, Zhuye); Su, LL (Su, Lili); Li, XP (Li, Xiaoping); Li, X (Li, Xin); Li, JH (Li, Junhua); Xiao, L (Xiao, Liang); Huber-Schonauer, U (Huber- Schoenauer, Ursula); Niederseer, D (Niederseer, David); Xu, X (Xu, Xun); Al- Aama, JY (Al-Aama, Jumana Yousuf); Yang, HM (Yang, Huanming); Wang, J (Wang, Jian); Kristiansen, K (Kristiansen, Karsten); Arumugam, M

(Arumugam, Manimozhiyan); Tilg, H (Tilg, Herbert); Datz, C (Datz, Christian);

Wang, J (Wang, Jun)

23. GxE Interactions between FOXO Genotypes and Tea Drinking Are Significantly Associated with Cognitive Disability at Advanced Ages in China ... 71

Zeng, Y (Zeng, Yi); Chen, HS (Chen, Huashuai); Ni, T (Ni, Ting); Ruan, RP (Ruan, Rongping); Feng, L (Feng, Lei); Nie, C (Nie, Chao); Cheng, LG (Cheng, Lingguo); Li, Y (Li, Yang); Tao, W (Tao, Wei); Gu, J (Gu, Jun); Land, KC (Land, Kenneth C.); Yashin, A (Yashin, Anatoli); Tan, QH (Tan, Qihua); Yang, Z (Yang, Ze); Bolund, L (Bolund, Lars); Yang, HM (Yang, Huanming); Hauser, E (Hauser, Elizabeth); Willcox, DC (Willcox, D. Craig); Willcox, BJ (Willcox, Bradley J.);

Tian, XL (Tian, Xiao-Li); Vaupel, JW (Vaupel, James W.)

9

24. Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants ... 72

Dashti, HS (Dashti, Hassan S.); Follis, JL (Follis, Jack L.); Smith, CE (Smith, Caren E.); Tanaka, T (Tanaka, Toshiko); Cade, BE (Cade, Brian E.); Gottlieb, DJ (Gottlieb, Daniel J.); Hruby, A (Hruby, Adela); Jacques, PF (Jacques, Paul F.);

Lamon-Fava, S (Lamon-Fava, Stefania); Richardson, K (Richardson, Kris);

Saxena, R (Saxena, Richa); Scheer, FAJL (Scheer, Frank A. J. L.); Kovanen, L (Kovanen, Leena); Bartz, TM (Bartz, Traci M.); Perala, MM (Perala, Mia- Maria); Jonsson, A (Jonsson, Anna); Frazier-Wood, AC (Frazier-Wood, Alexis C.); Kalafati, IP (Kalafati, Ioanna-Panagiota); Mikkila, V (Mikkila, Vera);

Partonen, T (Partonen, Timo); Lemaitre, RN (Lemaitre, Rozenn N.); Lahti, J (Lahti, Jari); Hernandez, DG (Hernandez, Dena G.); Toft, U (Toft, Ulla);

Johnson, WC (Johnson, W. Craig); Kanoni, S (Kanoni, Stavroula); Raitakari, OT (Raitakari, Olli T.); Perola, M (Perola, Markus); Psaty, BM (Psaty, Bruce M.); Ferrucci, L (Ferrucci, Luigi); Grarup, N (Grarup, Niels); Highland, HM (Highland, Heather M.); Rallidis, L (Rallidis, Loukianos); Kahonen, M

(Kahonen, Mika); Havulinna, AS (Havulinna, Aki S.); Siscovick, DS (Siscovick, David S.); Raikkonen, K (Raikkonen, Katri); Jorgensen, T (Jorgensen, Torben);

Rotter, JI (Rotter, Jerome I.); Deloukas, P (Deloukas, Panos); Viikari, JSA (Viikari, Jorma S. A.); Mozaffarian, D (Mozaffarian, Dariush); Linneberg, A (Linneberg, Allan); Seppala, I (Seppala, Ilkka); Hansen, T (Hansen, Torben);

Salomaa, V (Salomaa, Veikko); Gharib, SA (Gharib, Sina A.); Eriksson, JG (Eriksson, Johan G.); Bandinelli, S (Bandinelli, Stefania); Pedersen, O (Pedersen, Oluf); Rich, SS (Rich, Stephen S.); Dedoussis, G (Dedoussis, George); Lehtimaki, T (Lehtimaki, Terho); Ordovaas, JM (Ordovas, Jose M.)

25. Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family ... 74

Serafi, R (Serafi, Rehab); Jelani, M (Jelani, Musharraf); Almramhi, MM

(Almramhi, Mona M.); Mohamoud, HSA (Mohamoud, Hussein S. A.); Ahmed, S (Ahmed, Saleem); Alkhiary, YM (Alkhiary, Yaser M.); Zhang, JG (Zhang, Jianguo); Yang, HM (Yang, Huanming); Al-Aama, JY (Al-Aama, Jumana Y.)

26. In-Silico Analysis of Inflammatory Bowel Disease (IBD) GWAS Loci to Novel Connections... 75

Mesbah-Uddin, M (Mesbah-Uddin, Md.); Elango, R (Elango, Ramu);

Banaganapalli, B (Banaganapalli, Babajan); Shaik, NA (Shaik, Noor Ahmad);

Al-Abbasi, FA (Al-Abbasi, Fahad A.)

27. IPeak: An open source tool to combine results from multiple MS/MS search engines ... 76

Wen, B (Wen, Bo); Du, CQ (Du, Chaoqin); Li, GL (Li, Guilin); Ghali, F (Ghali, Fawaz); Jones, AR (Jones, Andrew R.); Kall, L (Kall, Lukas); Xu, SH (Xu,

10

Shaohang); Zhou, R (Zhou, Ruo); Ren, Z (Ren, Zhe); Feng, Q (Feng, Qiang); Xu, X (Xu, Xun); Wang, J (Wang, Jun)

28. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility ... 77

Wessel, J (Wessel, Jennifer); Chu, AY (Chu, Audrey Y.); Willems, SM (Willems, Sara M.); Wang, S (Wang, Shuai); Yaghootkar, H (Yaghootkar, Hanieh); Brody, JA (Brody, Jennifer A.); Dauriz, M (Dauriz, Marco); Hivert, MF (Hivert, Marie-France); Raghavan, S (Raghavan, Sridharan); Lipovich, L (Lipovich, Leonard); Hidalgo, B (Hidalgo, Bertha); Fox, K (Fox, Keolu);

Huffman, JE (Huffman, Jennifer E.); An, P (An, Ping); Lu, YC (Lu, Yingchang);

Rasmussen-Torvik, LJ (Rasmussen-Torvik, Laura J.); Grarup, N (Grarup, Niels); Ehm, MG (Ehm, Margaret G.); Li, L (Li, Li); Baldridge, AS (Baldridge, Abigail S.); Stancakova, A (Stancakova, Alena); Abrol, R (Abrol, Ravinder);

Besse, CL (Besse, Celine); Boland, A (Boland, Anne); Bork-Jensen, J (Bork- Jensen, Jette); Fornage, M (Fornage, Myriam); Freitag, DF (Freitag, Daniel F.);

Garcia, ME (Garcia, Melissa E.); Guo, XQ (Guo, Xiuqing); Hara, K (Hara, Kazuo); Isaacs, A (Isaacs, Aaron); Jakobsdottir, J (Jakobsdottir, Johanna);

Lange, LA (Lange, Leslie A.); Layton, JC (Layton, Jill C.); Li, M (Li, Man); Zhao, JH (Zhao, Jing Hua); Meidtner, K (Meidtner, Karina); Morrison, AC (Morrison, Alanna C.); Nalls, MA (Nalls, Mike A.); Peters, MJ (Peters, Marjolein J.);

Sabater-Lleal, M (Sabater-Lleal, Maria); Schurmann, C (Schurmann, Claudia);

Silveira, A (Silveira, Angela); Smith, AV (Smith, Albert V.); Southam, L (Southam, Lorraine); Stoiber, MH (Stoiber, Marcus H.); Strawbridge, RJ (Strawbridge, Rona J.); Taylor, KD (Taylor, Kent D.); Varga, TV (Varga, Tibor V.); Allin, KH (Allin, Kristine H.); Amin, N (Amin, Najaf); Aponte, JL (Aponte, Jennifer L.); Aung, T (Aung, Tin); Barbieri, C (Barbieri, Caterina); Bihlmeyer, NA (Bihlmeyer, Nathan A.); Boehnke, M (Boehnke, Michael); Bombieri, C (Bombieri, Cristina); Bowden, DW (Bowden, Donald W.); Burns, SM (Burns, Sean M.); Chen, YN (Chen, Yuning); Chen, YD (Chen, Yii-Deri); Cheng, CY (Cheng, Ching-Yu); Correa, A (Correa, Adolfo); Czajkowski, J (Czajkowski, Jacek); Dehghan, A (Dehghan, Abbas); Ehret, GB (Ehret, Georg B.);

Eiriksdottir, G (Eiriksdottir, Gudny); Escher, SA (Escher, Stefan A.); Farmaki, AE (Farmaki, Aliki-Eleni); Franberg, M (Franberg, Mattias); Gambaro, G (Gambaro, Giovanni); Giulianini, F (Giulianini, Franco); Goddard, WA (Goddard, William A., III); Goel, A (Goel, Anuj); Gottesman, O (Gottesman, Omri); Grove, ML (Grove, Megan L.); Gustafsson, S (Gustafsson, Stefan); Hai, Y (Hai, Yang); Hallmans, G (Hallmans, Goeran); Heo, J (Heo, Jiyoung);

Hoffmann, P (Hoffmann, Per); Ikram, MK (Ikram, Mohammad K.); Jensen, RA (Jensen, Richard A.); Jorgensen, ME (Jorgensen, Marit E.); Jorgensen, T (Jorgensen, Torben); Karaleftheri, M (Karaleftheri, Maria); Khor, CC (Khor, Chiea C.); Kirkpatrick, A (Kirkpatrick, Andrea); Kraja, AT (Kraja, Aldi T.);

Kuusisto, J (Kuusisto, Johanna); Lange, EM (Lange, Ethan M.); Lee, IT (Lee, I.

T.);

11

29. Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism ... 81

Germain, M (Germain, Marine); Chasman, DI (Chasman, Daniel I.); de Haan, H (de Haan, Hugoline); Tang, W (Tang, Weihong); Lindstrom, S (Lindstroem, Sara); Weng, LC (Weng, Lu-Chen); de Andrade, M (de Andrade, Mariza); de Visser, MCH (de Visser, Marieke C. H.); Wiggins, KL (Wiggins, Kerri L.);

Suchon, P (Suchon, Pierre); Saut, N (Saut, Noemie); Smadja, DM (Smadja, David M.); Le Gal, G (Le Gal, Gregoire); Vlieg, AV (Vlieg, Astrid van

Hylckama); Di Narzo, A (Di Narzo, Antonio); Hao, K (Hao, Ke); Nelson, CP (Nelson, Christopher P.); Rocanin-Arjo, A (Rocanin-Arjo, Ares); Folkersen, L (Folkersen, Lasse); Monajemi, R (Monajemi, Ramin); Rose, LM (Rose, Lynda M.); Brody, JA (Brody, Jennifer A.); Slagboom, E (Slagboom, Eline); Aissi, D (Aissi, Dylan); Gagnon, F (Gagnon, France); Deleuze, JF (Deleuze, Jean- Francois); Deloukas, P (Deloukas, Panos); Tzourio, C (Tzourio, Christophe);

Dartigues, JF (Dartigues, Jean-Francois); Berr, C (Berr, Claudine); Taylor, KD (Taylor, Kent D.); Civelek, M (Civelek, Mete); Eriksson, P (Eriksson, Per);

Psaty, BM (Psaty, Bruce M.); Houwing-Duitermaat, J (Houwing-Duitermaat, Jeanine); Goodall, AH (Goodall, Alison H.); Cambien, F (Cambien, Francois);

Kraft, P (Kraft, Peter); Amouyel, P (Amouyel, Philippe); Samani, NJ (Samani, Nilesh J.); Basu, S (Basu, Saonli); Ridker, PM (Ridker, Paul M.); Rosendaal, FR (Rosendaal, Frits R.); Kabrhel, C (Kabrhel, Christopher); Folsom, AR (Folsom, Aaron R.); Heit, J (Heit, John); Reitsma, PH (Reitsma, Pieter H.); Tregouet, DA (Tregouet, David-Alexandre); Smith, NL (Smith, Nicholas L.); Morange, PE (Morange, Pierre-Emmanuel)

30. Molecular Signatures of Major Depression ... 83 Cai, N (Cai, Na); Chang, S (Chang, Simon); Li, YH (Li, Yihan); Li, QB (Li, Qibin);

Hu, JC (Hu, Jingchu); Liang, JQ (Liang, Jieqin); Song, L (Song, Li); Kretzschmar, W (Kretzschmar, Warren); Gan, XC (Gan, Xiangchao); Nicod, J (Nicod,

Jerome); Rivera, M (Rivera, Margarita); Deng, H (Deng, Hong); Du, B (Du, Bo); Li, KQ (Li, Keqing); Sang, WH (Sang, Wenhu); Gao, JF (Gao, Jingfang);

Gao, SG (Gao, Shugui); Ha, BW (Ha, Baowei); Ho, HY (Ho, Hung-Yao); Hu, CM (Hu, Chunmei); Hu, J (Hu, Jian); Hu, ZF (Hu, Zhenfei); Huang, GP (Huang, Guoping); Jiang, GQ (Jiang, Guoqing); Jiang, T (Jiang, Tao); Jin, W (Jin, Wei);

Li, GY (Li, Gongying); Li, K (Li, Kan); Li, Y (Li, Yi); Li, YR (Li, Yingrui); Li, YH (Li, Youhui); Lin, YT (Lin, Yu-Ting); Liu, LF (Liu, Lanfen); Liu, TB (Liu, Tiebang); Liu, Y (Liu, Ying); Liu, Y (Liu, Yuan); Lu, Y (Lu, Yao); Lv, LX (Lv, Luxian); Meng, HQ (Meng, Huaqing); Qian, PY (Qian, Puyi); Sang, H (Sang, Hong); Shen, JH (Shen, Jianhua); Shi, JG (Shi, Jianguo); Sun, J (Sun, Jing); Tao, M (Tao, Ming);

Wang, G (Wang, Gang); Wang, GB (Wang, Guangbiao); Wang, J (Wang, Jian);

Wang, LM (Wang, Linmao); Wang, XY (Wang, Xueyi); Wang, XM (Wang, Xumei); Yang, HM (Yang, Huanming); Yang, LJ (Yang, Lijun); Yin, Y (Yin, Ye);

Zhang, JB (Zhang, Jinbei); Zhang, KR (Zhang, Kerang); Sun, N (Sun, Ning);

Zhang, W (Zhang, Wei); Zhang, XQ (Zhang, Xiuqing); Zhang, Z (Zhang, Zhen);

Zhong, H (Zhong, Hui); Breen, G (Breen, Gerome); Wang, J (Wang, Jun);

Marchini, J (Marchini, Jonathan); Chen, YP (Chen, Yiping); Xu, Q (Xu, Qi); Xu,

12

X (Xu, Xun); Mott, R (Mott, Richard); Huang, GJ (Huang, Guo-Jen); Kendler, K (Kendler, Kenneth); Flintl, J (Flintl, Jonathan)

31. Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family ... 85

Jelani, M (Jelani, Musharraf); Ahmeda, S (Ahmeda, Saleem); Almramhi, MM (Almramhi, Mona Mohammad); Mohamoud, HSA (Mohamoud, Hussein Sheikh Ali); Bakur, K (Bakur, Khadijah); Anshasi, W (Anshasi, Waseem);

Wang, J (Wang, Jun); Al-Aama, JY (Al-Aama, Jumana Yousuf)

32. Peptidomics combined with cDNA library unravel the diversity of centipede venom ... 86

Rong, MQ (Rong, Mingqiang); Yang, SL (Yang, Shilong); Wen, B (Wen, Bo);

Mo, GX (Mo, Guoxiang); Kang, D (Kang, Di); Liu, J (Liu, Jie); Lin, ZL (Lin, Zhilong); Jiang, WB (Jiang, Wenbin); Li, BW (Li, Bowen); Du, CQ (Du, Chaoqin); Yang, SJ (Yang, Shuanjuan); Jiang, H (Jiang, Hui); Feng, Q (Feng, Qiang); Xu, X (Xu, Xun); Wang, J (Wang, Jun); Lai, R (Lai, Ren)

33. Phylogenomic analyses data of the avian phylogenomics project ... 88 Jarvis, ED (Jarvis, Erich D.); Mirarab, S (Mirarab, Siavash); Aberer, AJ (Aberer, Andre J.); Li, B (Li, Bo); Houde, P (Houde, Peter); Li, C (Li, Cai); Ho, SYW (Ho, Simon Y. W.); Faircloth, BC (Faircloth, Brant C.); Nabholz, B (Nabholz, Benoit); Howard, JT (Howard, Jason T.); Suh, A (Suh, Alexander); Weber, CC (Weber, Claudia C.); da Fonseca, RR (da Fonseca, Rute R.); Alfaro-Nunez, A (Alfaro-Nunez, Alonzo); Narula, N (Narula, Nitish); Liu, L (Liu, Liang); Burt, D (Burt, Dave); Ellegren, H (Ellegren, Hans); Edwards, SV (Edwards, Scott V.);

Stamatakis, A (Stamatakis, Alexandros); Mindell, DP (Mindell, David P.);

Cracraft, J (Cracraft, Joel); Braun, EL (Braun, Edward L.); Warnow, T (Warnow, Tandy); Jun, W (Jun, Wang); Gilbert, MTP (Gilbert, M. Thomas Pius); Zhang, GJ (Zhang, Guojie)

34. Predicting genome-wide DNA methylation using methylation marks, genomic position, and DNA regulatory elements ... 90

Zhang, WW (Zhang, Weiwei); Spector, TD (Spector, Tim D.); Deloukas, P (Deloukas, Panos); Bell, JT (Bell, Jordana T.); Engelhardt, BE (Engelhardt, Barbara E.)

35. Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients ... 91

Saadah, OI (Saadah, Omar I.); Shaik, NA (Shaik, Noor Ahmad); Banaganapalli, B (Banaganapalli, Babajan); Salama, MA (Salama, Mohammed A.); Al-Harthi, SE (Al-Harthi, Sameer E.); Wang, J (Wang, Jun); Shawoosh, HA (Shawoosh, Harbi A.); Alghamdi, SA (Alghamdi, Sharifa A.); Bin-Taleb, YY (Bin-Taleb, Yagoub Y.); Alhussaini, BH (Alhussaini, Bakr H.); Elango, R (Elango, Ramu);

Al-Aama, JY (Al-Aama, Jumana Y.)

13

36. Sparse whole-genome sequencing identifies two loci for major depressive disorder ... 93

Cai, N (Cai, Na); Bigdeli, TB (Bigdeli, Tim B.); Kretzschmar, W (Kretzschmar, Warren); Li, YH (Li, Yihan); Liang, JQ (Liang, Jieqin); Song, L (Song, Li); Hu, JC (Hu, Jingchu); Li, QB (Li, Qibin); Jin, W (Jin, Wei); Hu, ZF (Hu, Zhenfei); Wang, GB (Wang, Guangbiao); Wang, LM (Wang, Linmao); Qian, PY (Qian, Puyi);

Liu, Y (Liu, Yuan); Jiang, T (Jiang, Tao); Lu, Y (Lu, Yao); Zhang, XQ (Zhang, Xiuqing); Yin, Y (Yin, Ye); Li, YR (Li, Yingrui); Xu, X (Xu, Xun); Gao, JF (Gao, Jingfang); Reimers, M (Reimers, Mark); Webb, T (Webb, Todd); Riley, B (Riley, Brien); Bacanu, S (Bacanu, Silviu); Peterson, RE (Peterson, Roseann E.); Chen, YP (Chen, Yiping); Zhong, H (Zhong, Hui); Liu, ZR (Liu, Zhengrong);

Wang, G (Wang, Gang); Sun, J (Sun, Jing); Sang, H (Sang, Hong); Jiang, GQ (Jiang, Guoqing); Zhou, XY (Zhou, Xiaoyan); Li, Y (Li, Yi); Li, Y (Li, Yi); Zhang, W (Zhang, Wei); Wang, XY (Wang, Xueyi); Fang, X (Fang, Xiang); Pan, RD (Pan, Runde); Miao, GD (Miao, Guodong); Zhang, QW (Zhang, Qiwen); Hu, J (Hu, Jian); Yu, FY (Yu, Fengyu); Du, B (Du, Bo); Sang, WH (Sang, Wenhua); Li, KQ (Li, Keqing); Chen, GB (Chen, Guibing); Cai, M (Cai, Min); Yang, LJ (Yang, Lijun); Yang, DL (Yang, Donglin); Ha, BW (Ha, Baowei); Hong, XH (Hong, Xiaohong); Deng, H (Deng, Hong); Li, GY (Li, Gongying); Li, K (Li, Kan); Song, Y (Song, Yan); Gao, SG (Gao, Shugui); Zhang, JB (Zhang, Jinbei); Gan, ZY (Gan, Zhaoyu); Meng, HQ (Meng, Huaqing); Pan, JY (Pan, Jiyang); Gao, CG (Gao, Chengge); Zhang, KR (Zhang, Kerang); Sun, N (Sun, Ning); Li, YH (Li, Youhui);

Niu, QH (Niu, Qihui); Zhang, YT (Zhang, Yutang); Liu, TQ (Liu, Tieqiao); Hu, CM (Hu, Chunmei); Zhang, Z (Zhang, Zhen); Lv, LX (Lv, Luxian); Dong, JC (Dong, Jicheng); Wang, XP (Wang, Xiaoping); Tao, M (Tao, Ming); Wang, XM (Wang, Xumei); Xia, J (Xia, Jing); Rong, H (Rong, Han); He, Q (He, Qiang); Liu, TB (Liu, Tiebang); Huang, GP (Huang, Guoping); Mei, QY (Mei, Qiyi); Shen, ZM (Shen, Zhenming); Liu, Y (Liu, Ying); Shen, JH (Shen, Jianhua); Tian, T (Tian, Tian); Liu, XJ (Liu, Xiaojuan); Wu, WY (Wu, Wenyuan); Gu, DH (Gu, Danhua); Fu, GY (Fu, Guangyi); Shi, JG (Shi, Jianguo); Chen, YC (Chen, Yunchun); Gan, XC (Gan, Xiangchao); Liu, LF (Liu, Lanfen); Wang, LN (Wang, Lina); Yang, FZ (Yang, Fuzhong); Cong, EZ (Cong, Enzhao); Marchini, J

(Marchini, Jonathan); Yang, HM (Yang, Huanming); Wang, J (Wang, Jian); Shi, SX (Shi, Shenxun); Mott, R (Mott, Richard); Xu, Q (Xu, Qi); Wang, J (Wang, Jun); Kendler, KS (Kendler, Kenneth S.); Flint, J (Flint, Jonathan)

37. Structural chromosomal abnormalities in couples with recurrent abortion in Egypt ... 95

Gaboon, NEA (Gaboon, Nagwa E. A.); Mohamed, AR (Mohamed, Ahmed Ramy); Elsayed, SM (Elsayed, Solaf M.); Zaki, OK (Zaki, Osama K.); Elsayed, MA (Elsayed, Mohamed A.)

38. Structural identification of putative USPs in Catharanthus roseus ... 96 Bahieldin, A (Bahieldin, Ahmed); Atef, A (Atef, Ahmed); Shokry, AM (Shokry, Ahmed M.); Al-Karim, S (Al-Karim, Saleh); Al Attas, SG (Al Attas, Sanaa G.);

Gadallah, NO (Gadallah, Nour O.); Edris, S (Edris, Sherif); Al-Kordy, MA (Al-

14

Kordy, Magdy A.); Omer, AMS (Omer, Abdulkader M. Shaikh); Sabir, JSM (Sabir, Jamal S. M.); Ramadan, AM (Ramadan, Ahmed M.); Al-Hajar, ASM (Al-Hajar, Abdulrahman S. M.); Makki, RM (Makki, Rania M.); Hassan, SM (Hassan, Sabah M.); El-Domyati, FM (El-Domyati, Fotouh M.)

39. The draft genome of Tibetan hulless barley reveals adaptive patterns to the high stressful Tibetan Plateau ... 97

Zeng, XQ (Zeng, Xingquan); Long, H (Long, Hai); Wang, Z (Wang, Zhuo); Zhao, SC (Zhao, Shancen); Tang, YW (Tang, Yawei); Huang, ZY (Huang, Zhiyong);

Wang, YL (Wang, Yulin); Xu, QJ (Xu, Qijun); Mao, LK (Mao, Likai); Deng, GB (Deng, Guangbing); Yao, XM (Yao, Xiaoming); Li, XF (Li, Xiangfeng); Bai, LJ (Bai, Lijun); Yuan, HJ (Yuan, Hongjun); Pan, ZF (Pan, Zhifen); Liu, RJ (Liu, Renjian); Chen, X (Chen, Xin); WangMu, QM (WangMu, QiMei); Chen, M (Chen, Ming); Yu, LL (Yu, Lili); Liang, JJ (Liang, Junjun); DunZhu, DW (DunZhu, DaWa); Zheng, Y (Zheng, Yuan); Yu, SY (Yu, Shuiyang); Luobu, ZX (LuoBu, ZhaXi); Guang, XM (Guang, Xuanmin); Li, J (Li, Jiang); Deng, C (Deng, Cao);

Hu, WS (Hu, Wushu); Chen, CH (Chen, Chunhai); TaBa, XN (TaBa, XiongNu);

Gao, LY (Gao, Liyun); Lv, XD (Lv, Xiaodan); Ben Abu, Y (Ben Abu, Yuval); Fang, XD (Fang, Xiaodong); Nevo, E (Nevo, Eviatar); Yu, MQ (Yu, Maoqun); Wang, J (Wang, Jun); Tashi, N (Tashi, Nyima)

40. The oral and gut microbiomes are perturbed in rheumatoid arthritis and partly normalized after treatment ... 99

Zhang, X (Zhang, Xuan); Zhang, DY (Zhang, Dongya); Jia, HJ (Jia, Huijue);

Feng, Q (Feng, Qiang); Wang, DH (Wang, Donghui); Liang, D (Liang, Di); Wu, XN (Wu, Xiangni); Li, JH (Li, Junhua); Tang, LQ (Tang, Longqing); Li, Y (Li, Yin);

Lan, Z (Lan, Zhou); Chen, B (Chen, Bing); Li, YL (Li, Yanli); Zhong, HZ (Zhong, Huanzi); Xie, HL (Xie, Hailiang); Jie, ZY (Jie, Zhuye); Chen, WN (Chen, Weineng); Tang, SM (Tang, Shanmei); Xu, XQ (Xu, Xiaoqiang); Wang, XK (Wang, Xiaokai); Cai, XH (Cai, Xianghang); Liu, S (Liu, Sheng); Xia, Y (Xia, Yan); Li, JY (Li, Jiyang); Qiao, XY (Qiao, Xingye); Al-Aama, JY (Al-Aama,

Jumana Yousuf); Chen, H (Chen, Hua); Wang, L (Wang, Li); Wu, QJ (Wu, Qing- jun); Zhang, FC (Zhang, Fengchun); Zheng, WJ (Zheng, Wenjie); Li, YZ (Li, Yongzhe); Zhang, MR (Zhang, Mingrong); Luo, GW (Luo, Guangwen); Xue, WB (Xue, Wenbin); Xiao, L (Xiao, Liang); Li, J (Li, Jun); Chen, WT (Chen, Wanting); Xu, X (Xu, Xun); Yin, Y (Yin, Ye); Yang, HM (Yang, Huanming);

Wang, J (Wang, Jian); Kristiansen, K (Kristiansen, Karsten); Liu, L (Liu, Liang);

Li, T (Li, Ting); Huang, QC (Huang, Qingchun); Li, YR (Li, Yingrui); Wang, J (Wang, Jun)

41. The p.Ser267Phe Variant in SLC10A1 Is Associated With Resistance to Chronic Hepatitis B ... 101

Peng, L (Peng, Liang); Zhao, Q (Zhao, Qiang); Li, QB (Li, Qibin); Li, MX (Li, Miaoxin); Li, CX (Li, Caixia); Xu, TT (Xu, Tingting); Jing, XY (Jing, Xiangyi); Zhu, X (Zhu, Xiang); Wang, Y (Wang, Ye); Li, FC (Li, Fucheng); Liu, RH (Liu,

Ruihong); Zhong, C (Zhong, Cheng); Pan, QH (Pan, Qihao); Zeng, BH (Zeng,

15

Binghui); Liao, QJ (Liao, Qijun); Hu, B (Hu, Bin); Hu, ZX (Hu, Zhao-xia); Huang, YS (Huang, Yang-su); Sham, P (Sham, Pak); Liu, JS (Liu, Jinsong); Xu, SH (Xu, Shuhua); Wang, J (Wang, Jun); Gao, ZL (Gao, Zhi-liang); Wang, YM (Wang, Yiming)

42. The possible antianginal effect of allopurinol in vasopressin-induced ischemic model in rats ... 103

Al-Zahrani, YA (Al-Zahrani, Yahya A.); Al-Harthi, SE (Al-Harthi, Sameer E.);

Khan, LM (Khan, Lateef M.); El-Bassossy, HM (El-Bassossy, Hani M.); Edris, SM (Edris, Sherif M.); Sattar, MAAA (Sattar, Mai A. Alim A.)

43. The Symbiodinium kawagutii genome illuminates dinoflagellate gene expression and coral symbiosis ... 104

Lin, SJ (Lin, Senjie); Cheng, SF (Cheng, Shifeng); Song, B (Song, Bo); Zhong, X (Zhong, Xiao); Lin, X (Lin, Xin); Li, WJ (Li, Wujiao); Li, L (Li, Ling); Zhang, YQ (Zhang, Yaqun); Zhang, H (Zhang, Huan); Ji, ZL (Ji, Zhiliang); Cai, MC (Cai, Meichun); Zhuang, YY (Zhuang, Yunyun); Shi, XG (Shi, Xinguo); Lin, LX (Lin, Lingxiao); Wang, L (Wang, Lu); Wang, ZB (Wang, Zhaobao); Liu, X (Liu, Xin);

Yu, S (Yu, Sheng); Zeng, P (Zeng, Peng); Hao, H (Hao, Han); Zou, Q (Zou, Quan); Chen, CX (Chen, Chengxuan); Li, YJ (Li, Yanjun); Wang, Y (Wang, Ying);

Xu, CY (Xu, Chunyan); Meng, SS (Meng, Shanshan); Xu, X (Xu, Xun); Wang, J (Wang, Jun); Yang, HM (Yang, Huanming); Campbell, DA (Campbell, David A.); Sturm, NR (Sturm, Nancy R.); Dagenais-Bellefeuille, S (Dagenais- Bellefeuille, Steve); Morse, D (Morse, David)

44. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation ... 105

Kato, N (Kato, Norihiro); Loh, M (Loh, Marie); Takeuchi, F (Takeuchi, Fumihiko); Verweij, N (Verweij, Niek); Wang, X (Wang, Xu); Zhang, WH (Zhang, Weihua); Kelly, TN (Kelly, Tanika N.); Saleheen, D (Saleheen,

Danish); Lehne, B (Lehne, Benjamin); Leach, IM (Leach, Irene Mateo); Drong, AW (Drong, Alexander W.); Abbott, J (Abbott, James); Wahl, S (Wahl,

Simone); Tan, ST (Tan, Sian-Tsung); Scott, WR (Scott, William R.);

Campanella, G (Campanella, Gianluca); Chadeau-Hyam, M (Chadeau-Hyam, Marc); Afzal, U (Afzal, Uzma); Ahluwalia, TS (Ahluwalia, Tarunveer S.);

Bonder, MJ (Bonder, Marc Jan); Chen, P (Chen, Peng); Dehghan, A (Dehghan, Abbas); Edwards, TL (Edwards, Todd L.); Esko, T (Esko, Tonu); Go, MJ (Go, Min Jin); Harris, SE (Harris, Sarah E.); Hartiala, J (Hartiala, Jaana); Kasela, S (Kasela, Silva); Kasturiratne, A (Kasturiratne, Anuradhani); Khor, CC (Khor, Chiea-Chuen); Kleber, ME (Kleber, Marcus E.); Li, HX (Li, Huaixing); Mok, ZY (Mok, Zuan Yu); Nakatochi, M (Nakatochi, Masahiro); Sapari, NS (Sapari, Nur Sabrina); Saxena, R (Saxena, Richa); Stewart, AFR (Stewart, Alexandre F. R.);

Stolk, L (Stolk, Lisette); Tabara, Y (Tabara, Yasuharu); Teh, AL (Teh, Ai Ling);

Wu, Y (Wu, Ying); Wu, JY (Wu, Jer-Yuarn); Zhang, Y (Zhang, Yi); Aits, I (Aits, Imke); Alves, ADC (Alves, Alexessander Da Silva Couto); Das, S (Das, Shikta);

Dorajoo, R (Dorajoo, Rajkumar); Hopewell, JC (Hopewell, Jemma C.); Kim, YK

16

(Kim, Yun Kyoung); Koivula, RW (Koivula, Robert W.); Luan, J (Luan, Jian'an);

Lyytikainen, LP (Lyytikainen, Leo-Pekka); Nguyen, QN (Nguyen, Quang N.);

Pereira, MA (Pereira, Mark A.); Postmus, I (Postmus, Iris); Raitakari, OT (Raitakari, Olli T.); Bryan, MS (Bryan, Molly Scannell); Scott, RA (Scott, Robert A.); Sorice, R (Sorice, Rossella); Tragante, V (Tragante, Vinicius);

Traglia, M (Traglia, Michela); White, J (White, Jon); Yamamoto, K

(Yamamoto, Ken); Zhang, YH (Zhang, Yonghong); Adair, LS (Adair, Linda S.);

Ahmed, A (Ahmed, Alauddin); Akiyama, K (Akiyama, Koichi); Asif, R (Asif, Rasheed); Aung, T (Aung, Tin); Barroso, I (Barroso, Ines); Bjonnes, A

(Bjonnes, Andrew); Braun, TR (Braun, Timothy R.); Cai, H (Cai, Hui); Chang, LC (Chang, Li-Ching); Chen, CH (Chen, Chien-Hsiun); Cheng, CY (Cheng, Ching- Yu); Chong, YS (Chong, Yap-Seng); Collins, R (Collins, Rory); Courtney, R (Courtney, Regina); Davies, G (Davies, Gail); Delgado, G (Delgado, Graciela);

Do, LD (Do, Loi D.); Doevendans, PA (Doevendans, Pieter A.); Gansevoort, RT (Gansevoort, Ron T.); Gao, YT (Gao, Yu-Tang); Grammer, TB (Grammer, Tanja B.); Grarup, N (Grarup, Niels); Grewal, J (Grewal, Jagvir); Gu, DF (Gu,

Dongfeng); Wander, GS (Wander, Gurpreet S.); Hartikainen, AL (Hartikainen, Anna-Liisa); Hazen, SL (Hazen, Stanley L.); He, J (He, Jing); Heng, CK (Heng, Chew-Kiat); Hixson, JE (Hixson, James E.); 105

Hofman, A (Hofman, Albert); Hsu, C (Hsu, Chris); Huang, W (Huang, Wei);

Husemoen, LLN (Husemoen, Lise L. N.); Hwang, JY (Hwang, Joo-Yeon);

Ichihara, S (Ichihara, Sahoko); Igase, M (Igase, Michiya); Isono, M (Isono, Masato); Justesen, JM (Justesen, Johanne M.); Katsuy, T (Katsuy, Tomohiro);

Kibriya, MG (Kibriya, Muhammad G.); Kim, YJ (Kim, Young Jin); Kishimoto, M (Kishimoto, Miyako); Koh, WP (Koh, Woon-Puay); Kohara, K (Kohara,

Katsuhiko); Kumari, M (Kumari, Meena); Kwek, K (Kwek, Kenneth); Lee, NR (Lee, Nanette R.); Lee, J (Lee, Jeannette); Liao, JM (Liao, Jiemin); Lieb, W (Lieb, Wolfgang); Liewald, DCM (Liewald, David C. M.); Matsubara, T (Matsubara, Tatsuaki); Matsushita, Y (Matsushita, Yumi); Meitinger, T (Meitinger, Thomas); Mihailov, E (Mihailov, Evelin); Milani, L (Milani, Lili);

Mills, R (Mills, Rebecca); Mononen, N (Mononen, Nina); Muller-Nurasyid, M (Mueller-Nurasyid, Martina); Nabika, T (Nabika, Toru); Nakashima, E

(Nakashima, Eitaro); Ng, HK (Ng, Hong Kiat); Nikus, K (Nikus, Kjell); Nutile, T (Nutile, Teresa); Ohkubo, T (Ohkubo, Takayoshi); Ohnaka, K (Ohnaka, Keizo);

Parish, S (Parish, Sarah); Paternoster, L (Paternoster, Lavinia); Peng, H (Peng, Hao); Peters, A (Peters, Annette); Pham, ST (Pham, Son T.);

Pinidiyapathirage, MJ (Pinidiyapathirage, Mohitha J.); Rahman, M (Rahman, Mahfuzar); Rakugi, H (Rakugi, Hiromi); Rolandsson, O (Rolandsson, Olov);

Rozario, MA (Rozario, Michelle Ann); Ruggiero, D (Ruggiero, Daniela); Sala, CF (Sala, Cinzia F.); Sarju, R (Sarju, Ralhan); Shimokawa, K (Shimokawa, Kazuro); Snieder, H (Snieder, Harold); Sparso, T (Sparso, Thomas); Spiering, W (Spiering, Wilko); Starr, JM (Starr, John M.); Stott, DJ (Stott, David J.);

Stram, DO (Stram, Daniel O.); Sugiyama, T (Sugiyama, Takao); Szymczak, S (Szymczak, Silke); Tang, WHW (Tang, W. H. Wilson); Tong, L (Tong, Lin);

Trompet, S (Trompet, Stella); Turjanmaa, V (Turjanmaa, Vaino); Ueshima, H (Ueshima, Hirotsugu); Uitterlinden, AG (Uitterlinden, Andre G.); Umemura, S

17

(Umemura, Satoshi); Vaarasmaki, M (Vaarasmaki, Marja); van Dam, RM (van Dam, Rob M.); van Gilst, WH (van Gilst, Wiek H.); van Veldhuisen, DJ (van Veldhuisen, Dirk J.); Viikari, JS (Viikari, Jorma S.); Waldenberger, M

(Waldenberger, Melanie); Wang, YQ (Wang, Yiqin); Wang, AL (Wang, Aili);

Wilson, R (Wilson, Rory); Wong, TY (Wong, Tien-Yin); Xiang, YB (Xiang, Yong- Bing); Yamaguchi, S (Yamaguchi, Shuhei); Ye, XW (Ye, Xingwang); Young, RD (Young, Robin D.); Young, TL (Young, Terri L.); Yuan, JM (Yuan, Jian-Min);

Zhou, XY (Zhou, Xueya); Asselbergs, FW (Asselbergs, Folkert W.); Ciullo, M (Ciullo, Marina); Clarke, R (Clarke, Robert); Deloukas, P (Deloukas, Panos);

Franke, A (Franke, Andre); Franks, PW (Franks, Paul W.); Franks, S (Franks, Steve); Friedlander, Y (Friedlander, Yechiel); Gross, MD (Gross, Myron D.);

Guo, ZR (Guo, Zhirong); Hansen, T (Hansen, Torben); Jarvelin, MR (Jarvelin, Marjo-Riitta); Jorgensen, T (Jorgensen, Torben); Jukema, JW (Jukema, J.

Wouter); Kahonen, M (Kahonen, Mika); Kajio, H (Kajio, Hiroshi); Kivimaki, M (Kivimaki, Mika); Lee, JY (Lee, Jong-Young); Lehtimaki, T (Lehtimaki, Terho);

Linneberg, A (Linneberg, Allan); Miki, T (Miki, Tetsuro); Pedersen, O (Pedersen, Oluf); Samani, NJ (Samani, Nilesh J.); Sorensen, TIA (Sorensen, Thorkild I. A.); Takayanagi, R (Takayanagi, Ryoichi); Toniolo, D (Toniolo, Daniela); Ahsan, H (Ahsan, Habibul); Allayee, H (Allayee, Hooman); Chen, YT (Chen, Yuan-Tsong); Danesh, J (Danesh, John); Deary, IJ (Deary, Ian J.);

Franco, OH (Franco, Oscar H.); Franke, L (Franke, Lude); Heijman, BT

(Heijman, Bastiaan T.); Holbrook, JD (Holbrook, Joanna D.); Isaacs, A (Isaacs, Aaron); Kim, BJ (Kim, Bong-Jo); Lin, X (Lin, Xu); Liu, JJ (Liu, Jianjun); Marz, W (Maerz, Winfried); Metspalu, A (Metspalu, Andres); Mohlke, KL (Mohlke, Karen L.); Sanghera, DK (Sanghera, Dharambir K.); Shu, XO (Shu, Xiao-Ou);

van Meurs, JBJ (van Meurs, Joyce B. J.); Vithana, E (Vithana, Eranga);

Wickremasinghe, AR (Wickremasinghe, Ananda R.); Wijmenga, C (Wijmenga, Cisca); Wolffenbuttel, BHW (Wolffenbuttel, Bruce H. W.); Yokota, M

(Yokota, Mitsuhiro); Zheng, W (Zheng, Wei); Zhu, DL (Zhu, Dingliang); Vineis, P (Vineis, Paolo); Kyrtopoulos, SA (Kyrtopoulos, Soterios A.); Kleinjans, JCS (Kleinjans, Jos C. S.); McCarthy, MI (McCarthy, Mark I.); Soong, R (Soong, Richie); Gieger, C (Gieger, Christian); Scott, J (Scott, James); Teo, YY (Teo, Yik-Ying); He, J (He, Jiang); Elliott, P (Elliott, Paul); Tai, ES (Tai, E. Shyong);

van der Harst, P (van der Harst, Pim); Kooner, JS (Kooner, Jaspal S.);

Chambers, JC (Chambers, John C.)

45. Transcriptome profiling of brown adipose tissue during cold exposure reveals extensive regulation of glucose metabolism ... 109

Hao, Q (Hao, Qin); Yadav, R (Yadav, Rachita); Basse, AL (Basse, Astrid L.);

Petersen, S (Petersen, Sidsel); Sonne, SB (Sonne, Si B.); Rasmussen, S (Rasmussen, Simon); Zhu, QH (Zhu, Qianhua); Lu, ZK (Lu, Zhike); Wang, J (Wang, Jun); Audouze, K (Audouze, Karine); Gupta, R (Gupta, Ramneek);

Madsen, L (Madsen, Lise); Kristiansen, K (Kristiansen, Karsten); Hansen, JB (Hansen, Jacob B.)

18

46. Whole-exome sequencing identifies a novel LRAT mutation underlying retinitis punctata albescens in a consanguineous Pakistani family ... 111

Jelani, M (Jelani, Musharraf); Jeon, M (Jeon, Miyeon); Rahman, OU (Rahman, Obaid Ur); Rahim, F (Rahim, Fazal); Naeem, M (Naeem, Muhammad); Kang, C (Kang, Changsoo) 111

47. Whole-genome sequence of the Tibetan frog Nanorana parkeri and the

comparative evolution of tetrapod genomes... 112 Sun, YB (Sun, Yan-Bo); Xiong, ZJ (Xiong, Zi-Jun); Xiang, XY (Xiang, Xue-Yan);

Liu, SP (Liu, Shi-Ping); Zhou, WW (Zhou, Wei-Wei); Tu, XL (Tu, Xiao-Long);

Zhong, L (Zhong, Li); Wang, L (Wang, Lu); Wu, DD (Wu, Dong-Dong); Zhang, BL (Zhang, Bao-Lin); Zhu, CL (Zhu, Chun-Ling); Yang, MM (Yang, Min-Min);

Chen, HM (Chen, Hong-Man); Li, F (Li, Fang); Zhou, L (Zhou, Long); Feng, SH (Feng, Shao-Hong); Huang, C (Huang, Chao); Zhang, GJ (Zhang, Guo-Jie);

Irwin, D (Irwin, David); Hillis, DM (Hillis, David M.); Murphy, RW (Murphy, Robert W.); Yang, HM (Yang, Huan-Ming); Che, J (Che, Jing); Wang, J (Wang, Jun); Zhang, YP (Zhang, Ya-Ping) 112

19

1. A catalog of the mouse gut metagenome

Xiao, L (Xiao, Liang); Feng, Q (Feng, Qiang); Liang, SS (Liang, Suisha); Sonne, SB (Sonne, Si Brask); Xia, ZK (Xia, Zhongkui); Qiu, XM (Qiu, Xinmin); Li, XP (Li, Xiaoping); Long, H (Long, Hua); Zhang, JF (Zhang, Jianfeng); Zhang, DY (Zhang,

Dongya); Liu, C (Liu, Chuan); Fang, ZW (Fang, Zhiwei); Chou, J (Chou, Joyce);

Glanville, J (Glanville, Jacob); Hao, Q (Hao, Qin); Kotowska, D (Kotowska, Dorota);

Colding, C (Colding, Camilla); Licht, TR (Licht, Tine Rask); Wu, DH (Wu, Donghai);

Yu, J (Yu, Jun); Sung, JJY (Sung, Joseph Jao Yiu); Liang, QY (Liang, Qiaoyi); Li, JH (Li, Junhua); Jia, HJ (Jia, Huijue); Lan, Z (Lan, Zhou); Tremaroli, V (Tremaroli, Valentina); Dworzynski, P (Dworzynski, Piotr); Nielsen, HB (Nielsen, H. Bjorn);

Backhed, F (Backhed, Fredrik); Dore, J (Dore, Joel); Le Chatelier, E (Le Chatelier, Emmanuelle); Ehrlich, SD (Ehrlich, S. Dusko); Lin, JC (Lin, John C.); Arumugam, M

(Arumugam, Manimozhiyan); Wang, J (Wang, Jun); Madsen, L (Madsen, Lise);

Kristiansen, K (Kristiansen, Karsten)

Abstract

We established a catalog of the mouse gut metagenome comprising similar to 2.6 million nonredundant genes by sequencing DNA from fecal samples of 184 mice. To secure high microbiome diversity, we used mouse strains of diverse genetic backgrounds, from different providers, kept in different housing laboratories and fed either a low-fat or high-fat diet. Similar to the human gut microbiome, >99% of the cataloged genes are bacterial. We identified 541 metagenomic species and defined a core set of 26 metagenomic species found in 95% of the mice. The mouse gut microbiome is functionally similar to its human counterpart, with 95.2% of its Kyoto Encyclopedia of Genes and Genomes (KEGG) orthologous groups in common. However, only 4.0% of the mouse gut microbial genes were shared (95% identity, 90% coverage) with those of the human gut microbiome. This catalog provides a useful reference for future studies.

Sources : NATURE BIOTECHNOLOGY

ISO Source Abbrev : Nat. Biotechnol.

Impact Factor : 43.113

Year : 2015

Volume : 33

Issue : 10

Pages : 1103-+

DOI : 10.1016/j.icheatmasstransfer.2011.12.002 Cited reference count : 29

Languge : English

Document Type : Article

Reprint Address : Kristiansen, K (reprint author), Beijing Genom Inst BGI Shenzhen, Shenzhen, Peoples R China.

Publisher : NATURE PUBLISHING GROUP

Web of Science Categories : Biotechnology & Applied Microbiology Research Areas : Biotechnology & Applied Microbiology

20

Faculty Name : Center of Princess Al-Jawhara for Excellence in Research of Hereditary Disorders

DSR No. : 5036

21

2. A comparison of isolated circulating tumor cells and tissue biopsies using whole-genome sequencing in prostate cancer

Jiang, RZ (Jiang, Runze); Lu, YT (Lu, Yi-Tsung); Ho, H (Ho, Hao); Li, B (Li, Bo); Chen, JF (Chen, Jie-Fu); Lin, M (Lin, Millicent); Li, FQ (Li, Fuqiang); Wu, K (Wu, Kui); Wu,

HJ (Wu, Hanjie); Lichterman, J (Lichterman, Jake); Wan, HL (Wan, Haolei); Lu, CL (Lu, Chia-Lun); OuYang, W (OuYang, William); Ni, M (Ni, Ming); Wang, LL (Wang, Linlin); Li, GB (Li, Guibo); Lee, T (Lee, Tom); Zhang, XQ (Zhang, Xiuqing); Yang, JT (Yang, Jonathan); Rettig, M (Rettig, Matthew); Chung, LWK (Chung, Leland W. K.);

Yang, HM (Yang, Huanming); Li, KC (Li, Ker-Chau); Hou, Y (Hou, Yong); Tseng, HR (Tseng, Hsian-Rong); Hou, S (Hou, Shuang); Xu, X (Xu, Xun); Wang, J (Wang, Jun);

Posadas, EM (Posadas, Edwin M.)

Abstract

Previous studies have demonstrated focal but limited molecular similarities between circulating tumor cells (CTCs) and biopsies using isolated genetic assays. We hypothesized that molecular similarity between CTCs and tissue exists at the single cell level when characterized by whole genome sequencing (WGS). By combining the NanoVelcro CTC Chip with laser capture microdissection (LCM), we developed a platform for single-CTC WGS. We performed this procedure on CTCs and tissue samples from a patient with advanced prostate cancer who had serial biopsies over the course of his clinical history. We achieved 30X depth and >= 95% coverage. Twenty-nine percent of the somatic single nucleotide variations (SSNVs) identified were founder mutations that were also identified in CTCs. In addition, 86%

of the clonal mutations identified in CTCs could be traced back to either the primary or metastatic tumors. In this patient, we identified structural variations (SVs) including an intrachromosomal rearrangement in chr3 and an interchromosomal rearrangement between chr13 and chr15. These rearrangements were shared between tumor tissues and CTCs. At the same time, highly heterogeneous short structural variants were discovered in PTEN, RB1, and BRCA2 in all tumor and CTC samples. Using high-quality WGS on single-CTCs, we identified the shared genomic alterations between CTCs and tumor tissues. This approach yielded insight into the heterogeneity of the mutational landscape of SSNVs and SVs. It may be possible to use this approach to study heterogeneity and characterize the biological evolution of a cancer during the course of its natural history.

Sources : ONCOTARGET

ISO Source Abbrev : Oncotarget Impact Factor : 5.008

Year : 2015

Volume : 6

Issue : 42

Pages : 44781-44793

DOI : 10.1016/j.icheatmasstransfer.2011.12.002 Cited reference count : 29

Languge : English

Document Type : Article

Reprint Address : Posadas, EM (reprint author), Cedars Sinai Med Ctr, Urol Oncol Res Program, Los Angeles, CA 90048 USA.

22

Publisher : IMPACT JOURNALS LLC Web of Science Categories : Oncology; Cell Biology Research Areas : Oncology; Cell Biology

Faculty Name : Center of Princess Al-Jawhara for Excellence in Research of Hereditary Disorders

DSR No. : 4194

23

3. A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease

Nikpay, M (Nikpay, Majid); Goel, A (Goel, Anuj); Won, HH (Won, Hong-Hee); Hall, LM (Hall, Leanne M.); Willenborg, C (Willenborg, Christina); Kanoni, S (Kanoni, Stavroula); Saleheen, D (Saleheen, Danish); Kyriakou, T (Kyriakou, Theodosios);

Nelson, CP (Nelson, Christopher P.); Hopewell, JC (Hopewell, Jemma C.); Webb, TR (Webb, Thomas R.); Zeng, L (Zeng, Lingyao); Dehghan, A (Dehghan, Abbas); Alver,

M (Alver, Maris); Armasu, SM (Armasu, Sebastian M.); Auro, K (Auro, Kirsi);

Bjonnes, A (Bjonnes, Andrew); Chasman, DI (Chasman, Daniel I.); Chen, SF (Chen, Shufeng); Ford, I (Ford, Ian); Franceschini, N (Franceschini, Nora); Gieger, C (Gieger, Christian); Grace, C (Grace, Christopher); Gustafsson, S (Gustafsson, Stefan); Huang, J (Huang, Jie); Hwang, SJ (Hwang, Shih-Jen); Kim, YK (Kim, Yun

Kyoung); Kleber, ME (Kleber, Marcus E.); Lau, KW (Lau, King Wai); Lu, XF (Lu, Xiangfeng); Lu, YC (Lu, Yingchang); Lyytikainen, LP (Lyytikainen, Leo-Pekka);

Mihailov, E (Mihailov, Evelin); Morrison, AC (Morrison, Alanna C.); Pervjakova, N (Pervjakova, Natalia); Qu, LM (Qu, Liming); Rose, LM (Rose, Lynda M.); Salfati, E (Salfati, Elias); Saxena, R (Saxena, Richa); Scholz, M (Scholz, Markus); Smith, AV (Smith, Albert V.); Tikkanen, E (Tikkanen, Emmi); Uitterlinden, A (Uitterlinden, Andre); Yang, XL (Yang, Xueli); Zhang, WH (Zhang, Weihua); Zhao, W (Zhao, Wei);

de Andrade, M (de Andrade, Mariza); de Vries, PS (de Vries, Paul S.); van Zuydam, NR (van Zuydam, Natalie R.); Anand, SS (Anand, Sonia S.); Bertram, L (Bertram, Lars); Beutner, F (Beutner, Frank); Dedoussis, G (Dedoussis, George); Frossard, P

(Frossard, Philippe); Gauguier, D (Gauguier, Dominique); Goodall, AH (Goodall, Alison H.); Gottesman, O (Gottesman, Omri); Haber, M (Haber, Marc); Han, BG (Han, Bok-Ghee); Huang, J (Huang, Jianfeng); Jalilzadeh, S (Jalilzadeh, Shapour);

Kessler, T (Kessler, Thorsten); Konig, IR (Koenig, Inke R.); Lannfelt, L (Lannfelt, Lars); Lieb, W (Lieb, Wolfgang); Lind, L (Lind, Lars); Lindgren, CM (Lindgren, Cecilia M.); Lokki, ML (Lokki, Marja-Liisa); Magnusson, PK (Magnusson, Patrik K.);

Mallick, NH (Mallick, Nadeem H.); Mehra, N (Mehra, Narinder); Meitinger, T (Meitinger, Thomas); Memon, FUR (Memon, Fazal-ur-Rehman); Morris, AP

(Morris, Andrew P.); Nieminen, MS (Nieminen, Markku S.); Pedersen, NL (Pedersen, Nancy L.); Peters, A (Peters, Annette); Rallidis, LS (Rallidis, Loukianos

S.); Rasheed, A (Rasheed, Asif); Samuel, M (Samuel, Maria); Shah, SH (Shah, Svati H.); Sinisalo, J (Sinisalo, Juha); Stirrups, KE (Stirrups, Kathleen E.); Trompet, S

(Trompet, Stella); Wang, LY (Wang, Laiyuan); Zaman, KS (Zaman, Khan S.);

Ardissino, D (Ardissino, Diego); Boerwinkle, E (Boerwinkle, Eric); Borecki, IB (Borecki, Ingrid B.); Bottinger, EP (Bottinger, Erwin P.); Buring, JE (Buring, Julie

E.); Chambers, JC (Chambers, John C.); Collins, R (Collins, Rory); Cupples, LA (Cupples, L. Adrienne); Danesh, J (Danesh, John); Demuth, I (Demuth, Ilja);

24

Elosua, R (Elosua, Roberto); Epstein, SE (Epstein, Stephen E.); Esko, T (Esko, Tonu);

Feitosa, MF (Feitosa, Mary F.); Franco, OH (Franco, Oscar H.); Franzosi, MG (Franzosi, Maria Grazia); Granger, CB (Granger, Christopher B.); Gu, DF (Gu,

Dongfeng); Gudnason, V (Gudnason, Vilmundur); Hall, AS (Hall, Alistair S.);

Hamsten, A (Hamsten, Anders); Harris, TB (Harris, Tamara B.); Hazen, SL (Hazen, Stanley L.); Hengstenberg, C (Hengstenberg, Christian); Hofman, A (Hofman, Albert); Ingelsson, E (Ingelsson, Erik); Iribarren, C (Iribarren, Carlos); Jukema, JW

(Jukema, J. Wouter); Karhunen, PJ (Karhunen, Pekka J.); Kim, BJ (Kim, Bong-Jo);

Kooner, JS (Kooner, Jaspal S.); Kullo, IJ (Kullo, Iftikhar J.); Lehtimaki, T (Lehtimaki, Terho); Loos, RJF (Loos, Ruth J. F.); Melander, O (Melander, Olle); Metspalu, A (Metspalu, Andres); Marz, W (Maerz, Winfried); Palmer, CN (Palmer, Colin N.);

Perola, M (Perola, Markus); Quertermous, T (Quertermous, Thomas); Rader, DJ (Rader, Daniel J.); Ridker, PM (Ridker, Paul M.); Ripatti, S (Ripatti, Samuli);

Roberts, R (Roberts, Robert); Salomaa, V (Salomaa, Veikko); Sanghera, DK (Sanghera, Dharambir K.); Schwartz, SM (Schwartz, Stephen M.); Seedorf, U (Seedorf, Udo); Stewart, AF (Stewart, Alexandre F.); Stott, DJ (Stott, David J.);

Thiery, J (Thiery, Joachim); Zalloua, PA (Zalloua, Pierre A.); O'Donnell, CJ (O'Donnell, Christopher J.); Reilly, MP (Reilly, Muredach P.); Assimes, TL (Assimes,

Themistocles L.); Thompson, JR (Thompson, John R.); Erdmann, J (Erdmann, Jeanette); Clarke, R (Clarke, Robert); Watkins, H (Watkins, Hugh); Kathiresan, S

(Kathiresan, Sekar); McPherson, R (McPherson, Ruth); Deloukas, P (Deloukas, Panos); Schunkert, H (Schunkert, Heribert); Samani, NJ (Samani, Nilesh J.); Farrall,

M (Farrall, Martin)

Abstract

Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association study (GWAS) analysis of common SNPs. Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analysis of similar to 185,000 CAD cases and controls, interrogating 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 million low- frequency (0.005 < MAF < 0.05) variants. In addition to confirming most known CAD-associated loci, we identified ten new loci (eight additive and two recessive) that contain candidate causal genes newly implicating biological processes in vessel walls. We observed intralocus allelic heterogeneity but little evidence of low-frequency variants with larger effects and no evidence of synthetic association. Our analysis provides a comprehensive survey of the fine genetic architecture of CAD, showing that genetic susceptibility to this common disease is largely determined by common SNPs of small effect size.

Sources : NATURE GENETICS

ISO Source Abbrev : Nature Genet.

Impact Factor : 31.616

Year : 2015

Volume : 47

Issue : 10

Pages : 1121-+

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DOI : 10.1016/j.icheatmasstransfer.2011.12.002 Cited reference count : 29

Languge : English

Document Type : Article

Reprint Address : Watkins, H (reprint author), Univ Oxford, Div Cardiovasc Med, Radcliffe Dept Med, Oxford, England.

Publisher : NATURE PUBLISHING GROUP Web of Science Categories : Genetics & Heredity

Research Areas : Genetics & Heredity

Faculty Name : Center of Princess Al-Jawhara for Excellence in Research of Hereditary Disorders

DSR No. : 5059

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4. A global reference for human genetic variation

Altshuler, DM (Altshuler, David M.); Durbin, RM (Durbin, Richard M.); Abecasis, GR (Abecasis, Goncalo R.); Bentley, DR (Bentley, David R.); Chakravarti, A

(Chakravarti, Aravinda); Clark, AG (Clark, Andrew G.); Donnelly, P (Donnelly, Peter); Eichler, EE (Eichler, Evan E.); Flicek, P (Flicek, Paul); Gabriel, SB (Gabriel,

Stacey B.); Gibbs, RA (Gibbs, Richard A.); Green, ED (Green, Eric D.); Hurles, ME (Hurles, Matthew E.); Knoppers, BM (Knoppers, Bartha M.); Korbel, JO (Korbel, Jan

O.); Lander, ES (Lander, Eric S.); Lee, C (Lee, Charles); Lehrach, H (Lehrach, Hans);

Mardis, ER (Mardis, Elaine R.); Marth, GT (Marth, Gabor T.); McVean, GA (McVean, Gil A.); Nickerson, DA (Nickerson, Deborah A.); Schmidt, JP (Schmidt, Jeanette P.);

Sherry, ST (Sherry, Stephen T.); Wang, J (Wang, Jun); Wilson, RK (Wilson, Richard K.); Gibbs, RA (Gibbs, Richard A.); Boerwinkle, E (Boerwinkle, Eric); Doddapaneni,

H (Doddapaneni, Harsha); Han, Y (Han, Yi); Korchina, V (Korchina, Viktoriya);

Kovar, C (Kovar, Christie); Lee, S (Lee, Sandra); Muzny, D (Muzny, Donna); Reid, JG (Reid, Jeffrey G.); Zhu, YM (Zhu, Yiming); Wang, J (Wang, Jun); Chang, YQ (Chang,

Yuqi); Feng, Q (Feng, Qiang); Fang, XD (Fang, Xiaodong); Guo, XS (Guo, Xiaosen);

Jian, M (Jian, Min); Jiang, H (Jiang, Hui); Jin, X (Jin, Xin); Lan, TM (Lan, Tianming);

Li, GQ (Li, Guoqing); Li, JX (Li, Jingxiang); Li, YR (Li, Yingrui); Liu, SM (Liu, Shengmao); Liu, X (Liu, Xiao); Lu, Y (Lu, Yao); Ma, XD (Ma, Xuedi); Tang, MF (Tang,

Meifang); Wang, B (Wang, Bo); Wang, GB (Wang, Guangbiao); Wu, HL (Wu, Honglong); Wu, RH (Wu, Renhua); Xu, X (Xu, Xun); Yin, Y (Yin, Ye); Zhang, DD (Zhang, Dandan); Zhang, WW (Zhang, Wenwei); Zhao, J (Zhao, Jiao); Zhao, MR (Zhao, Meiru); Zheng, XL (Zheng, Xiaole); Lander, ES (Lander, Eric S.); Altshuler,

DM (Altshuler, David M.); Gabriel, SB (Gabriel, Stacey B.); Gupta, N (Gupta, Namrata); Gharani, N (Gharani, Neda); Toji, LH (Toji, Lorraine H.); Gerry, NP (Gerry, Norman P.); Resch, AM (Resch, Alissa M.); Flicek, P (Flicek, Paul); Barker, J

(Barker, Jonathan); Clarke, L (Clarke, Laura); Gil, L (Gil, Laurent); Hunt, SE (Hunt, Sarah E.); Kelman, G (Kelman, Gavin); Kulesha, E (Kulesha, Eugene); Leinonen, R

(Leinonen, Rasko); McLaren, WM (McLaren, William M.); Radhakrishnan, R (Radhakrishnan, Rajesh); Roa, A (Roa, Asier); Smirnov, D (Smirnov, Dmitriy);

Smith, RE (Smith, Richard E.); Streeter, I (Streeter, Ian); Thormann, A (Thormann, Anja); Toneva, I (Toneva, Iliana); Vaughan, B (Vaughan, Brendan); Zheng-Bradley,

X (Zheng-Bradley, Xiangqun); Bentley, DR (Bentley, David R.); Grocock, R (Grocock, Russell); Humphray, S (Humphray, Sean); James, T (James, Terena);

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Kingsbury, Z (Kingsbury, Zoya); Lehrach, H (Lehrach, Hans); Sudbrak, R (Sudbrak, Ralf); Albrecht, MW (Albrecht, Marcus W.); Amstislavskiy, VS (Amstislavskiy,

Vyacheslav S.); Borodina, TA (Borodina, Tatiana A.); Lie