Literature DB >> 21522173

Bias due to selection of rare variants using frequency in controls.

Richard D Pearson.   

Abstract

Mesh:

Year:  2011        PMID: 21522173     DOI: 10.1038/ng.816

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


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  1 in total

1.  Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.

Authors:  Christopher T Johansen; Jian Wang; Matthew B Lanktree; Henian Cao; Adam D McIntyre; Matthew R Ban; Rebecca A Martins; Brooke A Kennedy; Reina G Hassell; Maartje E Visser; Stephen M Schwartz; Benjamin F Voight; Roberto Elosua; Veikko Salomaa; Christopher J O'Donnell; Geesje M Dallinga-Thie; Sonia S Anand; Salim Yusuf; Murray W Huff; Sekar Kathiresan; Robert A Hegele
Journal:  Nat Genet       Date:  2010-07-25       Impact factor: 38.330

  1 in total
  13 in total

1.  The role of SHANK2 rare variants in schizophrenia susceptibility.

Authors:  J Costas
Journal:  Mol Psychiatry       Date:  2015-08-25       Impact factor: 15.992

2.  Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.

Authors:  E M Kenny; P Cormican; S Furlong; E Heron; G Kenny; C Fahey; E Kelleher; S Ennis; D Tropea; R Anney; A P Corvin; G Donohoe; L Gallagher; M Gill; D W Morris
Journal:  Mol Psychiatry       Date:  2013-10-15       Impact factor: 15.992

3.  Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia.

Authors:  Christopher T Johansen; Jian Wang; Adam D McIntyre; Rebecca A Martins; Matthew R Ban; Matthew B Lanktree; Murray W Huff; Miklós Péterfy; Margarete Mehrabian; Aldons J Lusis; Sekar Kathiresan; Sonia S Anand; Salim Yusuf; Ann-Hwee Lee; Laurie H Glimcher; Henian Cao; Robert A Hegele
Journal:  Circ Cardiovasc Genet       Date:  2011-12-01

4.  Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Authors:  Panagiotis I Sergouniotis; Christina Chakarova; Cian Murphy; Mirjana Becker; Eva Lenassi; Gavin Arno; Monkol Lek; Daniel G MacArthur; Shomi S Bhattacharya; Anthony T Moore; Graham E Holder; Anthony G Robson; Uwe Wolfrum; Andrew R Webster; Vincent Plagnol
Journal:  Am J Hum Genet       Date:  2014-05-01       Impact factor: 11.025

5.  Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Authors:  Jérémie H Lefevre; Carolina Bonilla; Chrystelle Colas; Bruce Winney; Elaine Johnstone; Susan Tonks; Tammy Day; Katarzyna Hutnik; Abdelhamid Boumertit; Florent Soubrier; Rachel Midgley; David Kerr; Yann Parc; Walter F Bodmer
Journal:  J Hum Genet       Date:  2012-08-09       Impact factor: 3.172

6.  Rare DNA variants in the brain-derived neurotrophic factor gene increase risk for attention-deficit hyperactivity disorder: a next-generation sequencing study.

Authors:  Z Hawi; T D R Cummins; J Tong; M Arcos-Burgos; Q Zhao; N Matthews; D P Newman; B Johnson; A Vance; H S Heussler; F Levy; S Easteal; N R Wray; E Kenny; D Morris; L Kent; M Gill; M A Bellgrove
Journal:  Mol Psychiatry       Date:  2016-07-26       Impact factor: 15.992

7.  Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.

Authors:  Elizabeth J Leslie; M Adela Mansilla; Leah C Biggs; Kristi Schuette; Steve Bullard; Margaret Cooper; Martine Dunnwald; Andrew C Lidral; Mary L Marazita; Terri H Beaty; Jeffrey C Murray
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2012-09-24

8.  A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders.

Authors:  Yee Him Cheung; Gao Wang; Suzanne M Leal; Shuang Wang
Journal:  Genet Epidemiol       Date:  2012-08-03       Impact factor: 2.135

9.  Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

Authors:  Mohammed E El-Asrag; Panagiotis I Sergouniotis; Martin McKibbin; Vincent Plagnol; Eamonn Sheridan; Naushin Waseem; Zakia Abdelhamed; Declan McKeefry; Kristof Van Schil; James A Poulter; Colin A Johnson; Ian M Carr; Bart P Leroy; Elfride De Baere; Chris F Inglehearn; Andrew R Webster; Carmel Toomes; Manir Ali
Journal:  Am J Hum Genet       Date:  2015-05-14       Impact factor: 11.025

10.  A rapid method for combined analysis of common and rare variants at the level of a region, gene, or pathway.

Authors:  David Curtis
Journal:  Adv Appl Bioinform Chem       Date:  2012-07-24
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