Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Autor: Gorin, Michael, Moore, Anthony, Zhan, X, Larson, DE, Wang, C, Koboldt, DC, Sergeev, YV, Fulton, RS, Fulton, LL, Fronick, CC, Branham, KE, Bragg-Gresham, J

Publikováno v: Gorin, Michael; Moore, Anthony; Zhan, X; Larson, DE; Wang, C; Koboldt, DC; et al.(2013). Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/1j0241zc

Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::8e6e5793433a92432ce64e995d626efe
http://www.escholarship.org/uc/item/1j0241zc

Genome-wide detection and characterization of positive selection in human populations

Autor: Sabeti, PC, Varilly, P, Fry, B, Lohmueller, J, Hostetter, E, Cotsapas, C, Xie, X, Byrne, EH, McCarroll, SA, Gaudet, R, Schaffner, SF, Lander, ES, Frazer, KA, Ballinger, DG, Cox, DR, Hinds, DA, Stuve, LL, Gibbs, RA, Belmont, JW, Boudreau, A, Hardenbol, P, Leal, SM, Pasternak, S, Wheeler, DA, Willis, TD, Yu, F, Yang, H, Zeng, C, Gao, Y, Hu, H, Hu, W, Li, C, Lin, W, Liu, S, Pan, H, Tang, X, Wang, J, Wang, W, Yu, J, Zhang, B, Zhang, Q, Zhao, H, Zhou, J, Gabriel, SB, Barry, R, Blumenstiel, B, Camargo, A, Defelice, M, Faggart, M, Goyette, M, Gupta, S, Moore, J, Nguyen, H, Onofrio, RC, Parkin, M, Roy, J, Stahl, E, Winchester, E, Ziaugra, L, Altshuler, D, Shen, Y, Yao, Z, Huang, W, Chu, X, He, Y, Jin, L, Liu, Y, Sun, W, Wang, H, Wang, Y, Xiong, X, Xu, L, Waye, MM, Tsui, SK, Xue, H, Wong, JT, Galver, LM, Fan, JB, Gunderson, K, Murray, SS, Oliphant, AR, Chee, MS, Montpetit, A, Chagnon, F, Ferretti, V, Leboeuf, M, Olivier, JF, Phillips, MS, Roumy, S, Sallée, C, Verner, A, Hudson, TJ, Kwok, PY, Cai, D, Koboldt, DC, Miller, RD, Pawlikowska, L, Taillon-Miller, P, Xiao, M, Tsui, LC, Mak, W, Song, YQ, Tam, PK, Nakamura, Y, Kawaguchi, T, Kitamoto, T, Morizono, T, Nagashima, A, Ohnishi, Y, Sekine, A, Tanaka, T, Tsunoda, T, Deloukas, P, Bird, CP, Delgado, M, Dermitzakis, ET, Gwilliam, R, Hunt, S, Morrison, J, Powell, D, Stranger, BE, Whittaker, P, Bentley, DR, Daly, MJ, de Bakker, PI, Barrett, J, Chretien, YR, Maller, J, McCarroll, S, Patterson, N, Pe'er, I, Price, A, Purcell, S, Richter, DJ, Sabeti, P, Saxena, R, Sham, PC, Stein, LD, Krishnan, L, Smith, AV, Tello-Ruiz, MK, Thorisson, GA, Chakravarti, A, Chen, PE, Cutler, DJ, Kashuk, CS, Lin, S, Abecasis, GR, Guan, W, Li, Y, Munro, HM, Qin, ZS, Thomas, DJ, McVean, G, Auton, A, Bottolo, L, Cardin, N, Eyheramendy, S, Freeman, C, Marchini, J, Myers, S, Spencer, C, Stephens, M, Donnelly, P, Cardon, LR, Clarke, G, Evans, DM, Morris, AP, Weir, BS, Johnson, TA, Mullikin, JC, Sherry, ST, Feolo, M, Skol, A, Zhang, H, Matsuda, I, Fukushima, Y, Macer, DR, Suda, E, Rotimi, CN, Adebamowo, CA, Ajayi, I, Aniagwu, T, Marshall, PA, Nkwodimmah, C, Royal, CD, Leppert, MF, Dixon, M, Peiffer, A, Qiu, R, Kent, A, Kato, K, Niikawa, N, Adewole, IF, Knoppers, BM, Foster, MW, Clayton, EW, Watkin, J, Muzny, D, Nazareth, L, Sodergren, E, Weinstock, GM, Yakub, I, Birren, BW, Wilson, RK, Fulton, LL, Rogers, J, Burton, J, Carter, NP, Clee, CM, Griffiths, M, Jones, MC, McLay, K, Plumb, RW, Ross, MT, Sims, SK, Willey, DL, Chen, Z, Han, H, Kang, L, Godbout, M, Wallenburg, JC, L'Archevêque, P, Bellemare, G, Saeki, K, An, D, Fu, H, Li, Q, Wang, Z, Wang, R, Holden, AL, Brooks, LD, McEwen, JE, Guyer, MS, Wang, VO, Peterson, JL, Shi, M, Spiegel, J, Sung, LM, Zacharia, LF, Collins, FS, Kennedy, K, Jamieson, R, Stewart, J

With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c93820125ce76f402fc0df63158262a
https://europepmc.org/articles/PMC2687721/

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A draft human pangenome reference.

Autor: Liao WW; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.; Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA., Asri M; Genomics Institute, University of California, Santa Cruz, CA, USA., Ebler J; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany., Doerr D; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany., Haukness M; Genomics Institute, University of California, Santa Cruz, CA, USA., Hickey G; Genomics Institute, University of California, Santa Cruz, CA, USA., Lu S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA., Lucas JK; Genomics Institute, University of California, Santa Cruz, CA, USA., Monlong J; Genomics Institute, University of California, Santa Cruz, CA, USA., Abel HJ; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA., Buonaiuto S; Institute of Genetics and Biophysics, National Research Council, Naples, Italy., Chang XH; Genomics Institute, University of California, Santa Cruz, CA, USA., Cheng H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Chu J; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA., Colonna V; Institute of Genetics and Biophysics, National Research Council, Naples, Italy.; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Eizenga JM; Genomics Institute, University of California, Santa Cruz, CA, USA., Feng X; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Fischer C; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Fulton RS; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Garg S; Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Copenhagen, Denmark., Groza C; Quantitative Life Sciences, McGill University, Montréal, Québec, Canada., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Genomics Research Centre, Human Technopole, Milan, Italy., Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Heumos S; Quantitative Biology Center (QBiC), University of Tübingen, Tübingen, Germany.; Biomedical Data Science, Department of Computer Science, University of Tübingen, Tübingen, Germany., Howe K; Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK., Jain M; Northeastern University, Boston, MA, USA., Lu TY; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA., Markello C; Genomics Institute, University of California, Santa Cruz, CA, USA., Martin FJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Mitchell MW; Coriell Institute for Medical Research, Camden, NJ, USA., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Mwaniki MN; Department of Computer Science, University of Pisa, Pisa, Italy., Novak AM; Genomics Institute, University of California, Santa Cruz, CA, USA., Olsen HE; Genomics Institute, University of California, Santa Cruz, CA, USA., Pesout T; Genomics Institute, University of California, Santa Cruz, CA, USA., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Prins P; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Sibbesen JA; Center for Health Data Science, University of Copenhagen, Copenhagen, Denmark., Sirén J; Genomics Institute, University of California, Santa Cruz, CA, USA., Tomlinson C; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Villani F; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA., Antonacci-Fulton LL; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Baid G; Google, Mountain View, CA, USA., Baker CA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Belyaeva A; Google, Mountain View, CA, USA., Billis K; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Carroll A; Google, Mountain View, CA, USA., Chang PC; Google, Mountain View, CA, USA., Cody S; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Cook DE; Google, Mountain View, CA, USA., Cook-Deegan RM; Barrett and O'Connor Washington Center, Arizona State University, Washington, DC, USA., Cornejo OE; Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA., Diekhans M; Genomics Institute, University of California, Santa Cruz, CA, USA., Ebert P; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Core Unit Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Fairley S; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Fedrigo O; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA., Felsenfeld AL; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Formenti G; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA., Frankish A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Gao Y; Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Garrison NA; Institute for Society and Genetics, College of Letters and Science, University of California, Los Angeles, CA, USA.; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of General Internal Medicine and Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Giron CG; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Green RE; Department of Biomolecular Engineering, University of California, Santa Cruz, CA, USA.; Dovetail Genomics, Scotts Valley, CA, USA., Haggerty L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Hourlier T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Ji HP; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Koenig BA; Program in Bioethics and Institute for Human Genetics, University of California, San Francisco, CA, USA., Kolesnikov A; Google, Mountain View, CA, USA., Korbel JO; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany., Kordosky J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Lee H; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Magalhães H; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany., Marco-Sola S; Computer Sciences Department, Barcelona Supercomputing Center, Barcelona, Spain.; Departament d'Arquitectura de Computadors i Sistemes Operatius, Universitat Autònoma de Barcelona, Barcelona, Spain., Marijon P; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany., McCartney A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., McDaniel J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Mountcastle J; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA., Nattestad M; Google, Mountain View, CA, USA., Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Popejoy AB; Department of Public Health Sciences, University of California, Davis, CA, USA., Puiu D; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Regier AA; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sacco S; Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA., Sanders AD; Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Schneider VA; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Schultz BI; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Shafin K; Google, Mountain View, CA, USA., Smith MW; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Sofia HJ; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE., Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Tricomi FF; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Walenz B; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wood JMD; Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK., Zimin AV; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA., Bourque G; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Canadian Center for Computational Genomics, McGill University, Montréal, Québec, Canada.; Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan., Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Haussler D; Genomics Institute, University of California, Santa Cruz, CA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Wang T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Jarvis ED; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Laboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA., Miga KH; Genomics Institute, University of California, Santa Cruz, CA, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA. egarris5@uthsc.edu., Marschall T; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de., Hall IM; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu., Li H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA. hli@jimmy.harvard.edu.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. hli@jimmy.harvard.edu., Paten B; Genomics Institute, University of California, Santa Cruz, CA, USA. bpaten@ucsc.edu.

Publikováno v: Nature [Nature] 2023 May; Vol. 617 (7960), pp. 312-324. Date of Electronic Publication: 2023 May 10.