Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs-Reference-Cited by-同舟云学术

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

Published:2014-10-08 Issue:7 Volume:23 Page:975-983
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Pistis Giorgio,Porcu Eleonora,Vrieze Scott I,Sidore Carlo,Steri Maristella,Danjou Fabrice,Busonero Fabio,Mulas Antonella,Zoledziewska Magdalena,Maschio Andrea,Brennan Christine,Lai Sandra,Miller Michael B,Marcelli Marco,Urru Maria Francesca,Pitzalis Maristella,Lyons Robert H,Kang Hyun M,Jones Chris M,Angius Andrea,Iacono William G,Schlessinger David,McGue Matt,Cucca Francesco,Abecasis Gonçalo R,Sanna Serena

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014216.pdf

Reference25 articles.

1. Li Y, Sidore C, Kang HM, Boehnke M, Abecasis GR : Low-coverage sequencing: implications for design of complex trait association studies. Genome Res 2011; 21: 940–951.

2. Porcu E, Sanna S, Fuchsberger C, Fritsche LG : Genotype imputation in genome-wide association studies. Curr Protoc Hum Genet 2013; Chapter 1: Unit1.25.

3. Marchini J, Howie B : Genotype imputation for genome-wide association studies. Nat Rev Genet 2010; 11: 499–511.

4. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR : MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010; 34: 816–834.

5. Marchini J, Howie B, Myers S, McVean G, Donnelly P : A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007; 39: 906–913.

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