Literature DB >> 22641211

Exome sequencing and the genetic basis of complex traits.

Adam Kiezun1, Kiran Garimella, Ron Do, Nathan O Stitziel, Benjamin M Neale, Paul J McLaren, Namrata Gupta, Pamela Sklar, Patrick F Sullivan, Jennifer L Moran, Christina M Hultman, Paul Lichtenstein, Patrik Magnusson, Thomas Lehner, Yin Yao Shugart, Alkes L Price, Paul I W de Bakker, Shaun M Purcell, Shamil R Sunyaev.   

Abstract

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Year:  2012        PMID： 22641211      PMCID： PMC3727622          DOI： 10.1038/ng.2303

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  97 in total

1.  Genomic control for association studies.

Authors:  B Devlin; K Roeder
Journal:  Biometrics       Date:  1999-12       Impact factor: 2.571

2.  The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations.

Authors:  Gabor T Marth; Eva Czabarka; Janos Murvai; Stephen T Sherry
Journal:  Genetics       Date:  2004-01       Impact factor: 4.562

3.  Principal components analysis corrects for stratification in genome-wide association studies.

Authors:  Alkes L Price; Nick J Patterson; Robert M Plenge; Michael E Weinblatt; Nancy A Shadick; David Reich
Journal:  Nat Genet       Date:  2006-07-23       Impact factor: 38.330

4.  Power of deep, all-exon resequencing for discovery of human trait genes.

Authors:  Gregory V Kryukov; Alexander Shpunt; John A Stamatoyannopoulos; Shamil R Sunyaev
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-06       Impact factor: 11.205

5.  Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Authors:  Sarah B Pierce; Tom Walsh; Karen M Chisholm; Ming K Lee; Anne M Thornton; Agata Fiumara; John M Opitz; Ephrat Levy-Lahad; Rachel E Klevit; Mary-Claire King
Journal:  Am J Hum Genet       Date:  2010-07-30       Impact factor: 11.025

6.  Performance of mutation pathogenicity prediction methods on missense variants.

Authors:  Janita Thusberg; Ayodeji Olatubosun; Mauno Vihinen
Journal:  Hum Mutat       Date:  2011-02-22       Impact factor: 4.878

7.  On the follow-up of genome-wide association studies: an overall test for the most promising SNPs.

Authors:  Peter J Lipman; Michael H Cho; Per Bakke; Amund Gulsvik; Xiangyang Kong; David A Lomas; Wayne Anderson; Edwin K Silverman; Christoph Lange
Journal:  Genet Epidemiol       Date:  2011-03-03       Impact factor: 2.135

8.  Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Authors:  Sean V Tavtigian; Peter J Oefner; Davit Babikyan; Anne Hartmann; Sue Healey; Florence Le Calvez-Kelm; Fabienne Lesueur; Graham B Byrnes; Shu-Chun Chuang; Nathalie Forey; Corinna Feuchtinger; Lydie Gioia; Janet Hall; Mia Hashibe; Barbara Herte; Sandrine McKay-Chopin; Alun Thomas; Maxime P Vallée; Catherine Voegele; Penelope M Webb; David C Whiteman; Suleeporn Sangrajrang; John L Hopper; Melissa C Southey; Irene L Andrulis; Esther M John; Georgia Chenevix-Trench
Journal:  Am J Hum Genet       Date:  2009-09-24       Impact factor: 11.025

9.  Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Authors:  Richa Saxena; Benjamin F Voight; Valeriya Lyssenko; Noël P Burtt; Paul I W de Bakker; Hong Chen; Jeffrey J Roix; Sekar Kathiresan; Joel N Hirschhorn; Mark J Daly; Thomas E Hughes; Leif Groop; David Altshuler; Peter Almgren; Jose C Florez; Joanne Meyer; Kristin Ardlie; Kristina Bengtsson Boström; Bo Isomaa; Guillaume Lettre; Ulf Lindblad; Helen N Lyon; Olle Melander; Christopher Newton-Cheh; Peter Nilsson; Marju Orho-Melander; Lennart Råstam; Elizabeth K Speliotes; Marja-Riitta Taskinen; Tiinamaija Tuomi; Candace Guiducci; Anna Berglund; Joyce Carlson; Lauren Gianniny; Rachel Hackett; Liselotte Hall; Johan Holmkvist; Esa Laurila; Marketa Sjögren; Maria Sterner; Aarti Surti; Margareta Svensson; Malin Svensson; Ryan Tewhey; Brendan Blumenstiel; Melissa Parkin; Matthew Defelice; Rachel Barry; Wendy Brodeur; Jody Camarata; Nancy Chia; Mary Fava; John Gibbons; Bob Handsaker; Claire Healy; Kieu Nguyen; Casey Gates; Carrie Sougnez; Diane Gage; Marcia Nizzari; Stacey B Gabriel; Gung-Wei Chirn; Qicheng Ma; Hemang Parikh; Delwood Richardson; Darrell Ricke; Shaun Purcell
Journal:  Science       Date:  2007-04-26       Impact factor: 47.728

Review 10.  Exome sequencing: the sweet spot before whole genomes.

Authors:  Jamie K Teer; James C Mullikin
Journal:  Hum Mol Genet       Date:  2010-08-12       Impact factor: 6.150
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  211 in total

Review 1.  Genetic architectures of psychiatric disorders: the emerging picture and its implications.

Authors:  Patrick F Sullivan; Mark J Daly; Michael O'Donovan
Journal:  Nat Rev Genet       Date:  2012-07-10       Impact factor: 53.242

2.  An efficient resampling method for calibrating single and gene-based rare variant association analysis in case-control studies.

Authors:  Seunggeun Lee; Christian Fuchsberger; Sehee Kim; Laura Scott
Journal:  Biostatistics       Date:  2015-09-11       Impact factor: 5.899

Review 3.  Genetics of Bipolar Disorder: Recent Update and Future Directions.

Authors:  Fernando S Goes
Journal:  Psychiatr Clin North Am       Date:  2016-03

4.  Phenotypic extremes in rare variant study designs.

Authors:  Gina M Peloso; Daniel J Rader; Stacey Gabriel; Sekar Kathiresan; Mark J Daly; Benjamin M Neale
Journal:  Eur J Hum Genet       Date:  2015-09-09       Impact factor: 4.246

Review 5.  Applications of high-throughput DNA sequencing to benign hematology.

Authors:  Vijay G Sankaran; Patrick G Gallagher
Journal:  Blood       Date:  2013-09-10       Impact factor: 22.113

6.  Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

Authors:  Stéphanie Guey; Markus Kraemer; Dominique Hervé; Thomas Ludwig; Manoëlle Kossorotoff; Françoise Bergametti; Jan Claudius Schwitalla; Simone Choi; Lucile Broseus; Isabelle Callebaut; Emmanuelle Genin; Elisabeth Tournier-Lasserve
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

7.  Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests.

Authors:  Matthew Zawistowski; Mark Reppell; Daniel Wegmann; Pamela L St Jean; Margaret G Ehm; Matthew R Nelson; John Novembre; Sebastian Zöllner
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

8.  CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease.

Authors:  Lipika R Pal; Kunal Kundu; Yizhou Yin; John Moult
Journal:  Hum Mutat       Date:  2017-06-28       Impact factor: 4.878

9.  The effects of a MAP2K5 microRNA target site SNP on risk for anxiety and depressive disorders.

Authors:  Kevin P Jensen; Henry R Kranzler; Murray B Stein; Joel Gelernter
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2014-01-16       Impact factor: 3.568

Review 10.  A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Authors:  Alisa M Goldstein; Elizabeth M Gillanders; Melissa Rotunno; Rolando Barajas; Mindy Clyne; Elise Hoover; Naoko I Simonds; Tram Kim Lam; Leah E Mechanic
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2020-05-28       Impact factor: 4.254
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