Testing the Effect of Rare Compound-Heterozygous and Recessive Mutations in Case-Parent Sequencing Studies-Reference-Cited by-同舟云学术

Testing the Effect of Rare Compound-Heterozygous and Recessive Mutations in Case-Parent Sequencing Studies

Published:2015-01-28 Issue:3 Volume:39 Page:166-172
ISSN:0741-0395
Container-title:Genetic Epidemiology
language:en
Short-container-title:Genet. Epidemiol.

Author:

Jiang Yu¹,McCarthy Janice M.¹,Allen Andrew S.¹²

Affiliation:

1. Department of Biostatistics and Bioinformatics; Duke University; Durham North Carolina United States of America

2. Center for Human Genome Variation; Duke University School of Medicine; Durham North Carolina United States of America

Publisher

Wiley

Subject

Genetics (clinical),Epidemiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/gepi.21885/fullpdf

Reference20 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Testing for modes of inheritance involving compound heterozygotes;Bacanu;Genet Epidemiol,2013

3. Rapid and accurate haplotype phasing and missing data inference for whole genome association studies using localized haplotype clustering;Browning;Genet Epidemiol,2007

4. Search for compound heterozygous effects in exome sequence of unrelated subjects;Christensen;BMC Proc,2011

5. Uncovering the roles of rare variants in common disease through whole-genome sequencing;Cirulli;Nat Rev Genet,2010

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