Literature DB >> 28686856

10 Years of GWAS Discovery: Biology, Function, and Translation.

Peter M Visscher1, Naomi R Wray2, Qian Zhang3, Pamela Sklar4, Mark I McCarthy5, Matthew A Brown6, Jian Yang2.   

Abstract

Application of the experimental design of genome-wide association studies (GWASs) is now 10 years old (young), and here we review the remarkable range of discoveries it has facilitated in population and complex-trait genetics, the biology of diseases, and translation toward new therapeutics. We predict the likely discoveries in the next 10 years, when GWASs will be based on millions of samples with array data imputed to a large fully sequenced reference panel and on hundreds of thousands of samples with whole-genome sequencing data.
Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  SNP; auto-immune disease; genome-wide association study; heritability; obesity; schizophrenia

Mesh:

Year:  2017        PMID: 28686856      PMCID: PMC5501872          DOI: 10.1016/j.ajhg.2017.06.005

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  144 in total

1.  Personal genomes: The case of the missing heritability.

Authors:  Brendan Maher
Journal:  Nature       Date:  2008-11-06       Impact factor: 49.962

Review 2.  The role of regulatory variation in complex traits and disease.

Authors:  Frank W Albert; Leonid Kruglyak
Journal:  Nat Rev Genet       Date:  2015-02-24       Impact factor: 53.242

3.  Identifying causal variants at loci with multiple signals of association.

Authors:  Farhad Hormozdiari; Emrah Kostem; Eun Yong Kang; Bogdan Pasaniuc; Eleazar Eskin
Journal:  Genetics       Date:  2014-08-07       Impact factor: 4.562

4.  Integrative approaches for large-scale transcriptome-wide association studies.

Authors:  Alexander Gusev; Arthur Ko; Huwenbo Shi; Gaurav Bhatia; Wonil Chung; Brenda W J H Penninx; Rick Jansen; Eco J C de Geus; Dorret I Boomsma; Fred A Wright; Patrick F Sullivan; Elina Nikkola; Marcus Alvarez; Mete Civelek; Aldons J Lusis; Terho Lehtimäki; Emma Raitoharju; Mika Kähönen; Ilkka Seppälä; Olli T Raitakari; Johanna Kuusisto; Markku Laakso; Alkes L Price; Päivi Pajukanta; Bogdan Pasaniuc
Journal:  Nat Genet       Date:  2016-02-08       Impact factor: 38.330

5.  FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.

Authors:  Melina Claussnitzer; Simon N Dankel; Kyoung-Han Kim; Gerald Quon; Wouter Meuleman; Christine Haugen; Viktoria Glunk; Isabel S Sousa; Jacqueline L Beaudry; Vijitha Puviindran; Nezar A Abdennur; Jannel Liu; Per-Arne Svensson; Yi-Hsiang Hsu; Daniel J Drucker; Gunnar Mellgren; Chi-Chung Hui; Hans Hauner; Manolis Kellis
Journal:  N Engl J Med       Date:  2015-08-19       Impact factor: 91.245

6.  Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Authors:  Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; Jerry K H Wales; Penelope Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Journal:  N Engl J Med       Date:  2004-04-29       Impact factor: 91.245

7.  A reference panel of 64,976 haplotypes for genotype imputation.

Authors:  Shane McCarthy; Sayantan Das; Warren Kretzschmar; Olivier Delaneau; Andrew R Wood; Alexander Teumer; Hyun Min Kang; Christian Fuchsberger; Petr Danecek; Kevin Sharp; Yang Luo; Carlo Sidore; Alan Kwong; Nicholas Timpson; Seppo Koskinen; Scott Vrieze; Laura J Scott; He Zhang; Anubha Mahajan; Jan Veldink; Ulrike Peters; Carlos Pato; Cornelia M van Duijn; Christopher E Gillies; Ilaria Gandin; Massimo Mezzavilla; Arthur Gilly; Massimiliano Cocca; Michela Traglia; Andrea Angius; Jeffrey C Barrett; Dorrett Boomsma; Kari Branham; Gerome Breen; Chad M Brummett; Fabio Busonero; Harry Campbell; Andrew Chan; Sai Chen; Emily Chew; Francis S Collins; Laura J Corbin; George Davey Smith; George Dedoussis; Marcus Dorr; Aliki-Eleni Farmaki; Luigi Ferrucci; Lukas Forer; Ross M Fraser; Stacey Gabriel; Shawn Levy; Leif Groop; Tabitha Harrison; Andrew Hattersley; Oddgeir L Holmen; Kristian Hveem; Matthias Kretzler; James C Lee; Matt McGue; Thomas Meitinger; David Melzer; Josine L Min; Karen L Mohlke; John B Vincent; Matthias Nauck; Deborah Nickerson; Aarno Palotie; Michele Pato; Nicola Pirastu; Melvin McInnis; J Brent Richards; Cinzia Sala; Veikko Salomaa; David Schlessinger; Sebastian Schoenherr; P Eline Slagboom; Kerrin Small; Timothy Spector; Dwight Stambolian; Marcus Tuke; Jaakko Tuomilehto; Leonard H Van den Berg; Wouter Van Rheenen; Uwe Volker; Cisca Wijmenga; Daniela Toniolo; Eleftheria Zeggini; Paolo Gasparini; Matthew G Sampson; James F Wilson; Timothy Frayling; Paul I W de Bakker; Morris A Swertz; Steven McCarroll; Charles Kooperberg; Annelot Dekker; David Altshuler; Cristen Willer; William Iacono; Samuli Ripatti; Nicole Soranzo; Klaudia Walter; Anand Swaroop; Francesco Cucca; Carl A Anderson; Richard M Myers; Michael Boehnke; Mark I McCarthy; Richard Durbin
Journal:  Nat Genet       Date:  2016-08-22       Impact factor: 38.330

8.  Integrative analysis of 111 reference human epigenomes.

Authors:  Anshul Kundaje; Wouter Meuleman; Jason Ernst; Misha Bilenky; Angela Yen; Alireza Heravi-Moussavi; Pouya Kheradpour; Zhizhuo Zhang; Jianrong Wang; Michael J Ziller; Viren Amin; John W Whitaker; Matthew D Schultz; Lucas D Ward; Abhishek Sarkar; Gerald Quon; Richard S Sandstrom; Matthew L Eaton; Yi-Chieh Wu; Andreas R Pfenning; Xinchen Wang; Melina Claussnitzer; Yaping Liu; Cristian Coarfa; R Alan Harris; Noam Shoresh; Charles B Epstein; Elizabeta Gjoneska; Danny Leung; Wei Xie; R David Hawkins; Ryan Lister; Chibo Hong; Philippe Gascard; Andrew J Mungall; Richard Moore; Eric Chuah; Angela Tam; Theresa K Canfield; R Scott Hansen; Rajinder Kaul; Peter J Sabo; Mukul S Bansal; Annaick Carles; Jesse R Dixon; Kai-How Farh; Soheil Feizi; Rosa Karlic; Ah-Ram Kim; Ashwinikumar Kulkarni; Daofeng Li; Rebecca Lowdon; GiNell Elliott; Tim R Mercer; Shane J Neph; Vitor Onuchic; Paz Polak; Nisha Rajagopal; Pradipta Ray; Richard C Sallari; Kyle T Siebenthall; Nicholas A Sinnott-Armstrong; Michael Stevens; Robert E Thurman; Jie Wu; Bo Zhang; Xin Zhou; Arthur E Beaudet; Laurie A Boyer; Philip L De Jager; Peggy J Farnham; Susan J Fisher; David Haussler; Steven J M Jones; Wei Li; Marco A Marra; Michael T McManus; Shamil Sunyaev; James A Thomson; Thea D Tlsty; Li-Huei Tsai; Wei Wang; Robert A Waterland; Michael Q Zhang; Lisa H Chadwick; Bradley E Bernstein; Joseph F Costello; Joseph R Ecker; Martin Hirst; Alexander Meissner; Aleksandar Milosavljevic; Bing Ren; John A Stamatoyannopoulos; Ting Wang; Manolis Kellis
Journal:  Nature       Date:  2015-02-19       Impact factor: 69.504

9.  Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis.

Authors:  Po-Ru Loh; Gaurav Bhatia; Alexander Gusev; Hilary K Finucane; Brendan K Bulik-Sullivan; Samuela J Pollack; Teresa R de Candia; Sang Hong Lee; Naomi R Wray; Kenneth S Kendler; Michael C O'Donovan; Benjamin M Neale; Nick Patterson; Alkes L Price
Journal:  Nat Genet       Date:  2015-11-02       Impact factor: 38.330

10.  Genetic and environmental exposures constrain epigenetic drift over the human life course.

Authors:  Sonia Shah; Allan F McRae; Riccardo E Marioni; Sarah E Harris; Jude Gibson; Anjali K Henders; Paul Redmond; Simon R Cox; Alison Pattie; Janie Corley; Lee Murphy; Nicholas G Martin; Grant W Montgomery; John M Starr; Naomi R Wray; Ian J Deary; Peter M Visscher
Journal:  Genome Res       Date:  2014-09-23       Impact factor: 9.043

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  912 in total

1.  Screening Human Embryos for Polygenic Traits Has Limited Utility.

Authors:  Ehud Karavani; Or Zuk; Danny Zeevi; Nir Barzilai; Nikos C Stefanis; Alex Hatzimanolis; Nikolaos Smyrnis; Dimitrios Avramopoulos; Leonid Kruglyak; Gil Atzmon; Max Lam; Todd Lencz; Shai Carmi
Journal:  Cell       Date:  2019-11-21       Impact factor: 41.582

2.  Separating Measured Genetic and Environmental Effects: Evidence Linking Parental Genotype and Adopted Child Outcomes.

Authors:  Benjamin W Domingue; Jason Fletcher
Journal:  Behav Genet       Date:  2020-04-30       Impact factor: 2.805

3.  DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies.

Authors:  Bettina Mieth; Alexandre Rozier; Juan Antonio Rodriguez; Marina M C Höhne; Nico Görnitz; Klaus-Robert Müller
Journal:  NAR Genom Bioinform       Date:  2021-07-20

4.  Molecular Origins of Complex Heritability in Natural Genotype-to-Phenotype Relationships.

Authors:  Christopher M Jakobson; Daniel F Jarosz
Journal:  Cell Syst       Date:  2019-05-01       Impact factor: 10.304

5.  Statistical methods to detect novel genetic variants using publicly available GWAS summary data.

Authors:  Bin Guo; Baolin Wu
Journal:  Comput Biol Chem       Date:  2018-03-01       Impact factor: 2.877

6.  Male antisocial behaviour in adolescence and beyond.

Authors:  Terrie E Moffitt
Journal:  Nat Hum Behav       Date:  2018-02-21

7.  A hybrid method of the sequential Monte Carlo and the Edgeworth expansion for computation of very small p-values in permutation tests.

Authors:  James J Yang; Elisa M Trucco; Anne Buu
Journal:  Stat Methods Med Res       Date:  2018-08-03       Impact factor: 3.021

8.  Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.

Authors: 
Journal:  Cell       Date:  2018-06-14       Impact factor: 41.582

9.  Fine mapping of 14q13 reveals novel variants associated with different histological subtypes of papillary thyroid carcinoma.

Authors:  Jarosław Jendrzejewski; Sandya Liyanarachchi; Andrew Eiterman; Andrew Thomas; Huiling He; Rebecca Nagy; Leigha Senter; Krzysztof Sworczak; Albert de la Chapelle
Journal:  Int J Cancer       Date:  2018-12-03       Impact factor: 7.396

Review 10.  Genes that make you fat, but keep you healthy.

Authors:  R J F Loos; T O Kilpeläinen
Journal:  J Intern Med       Date:  2018-10-02       Impact factor: 8.989

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