Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing-Reference-Cited by-同舟云学术

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

Published:2012-12 Issue:6 Volume:91 Page:1022-1032
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Xue Yali,Chen Yuan,Ayub Qasim,Huang Ni,Ball Edward V.,Mort Matthew,Phillips Andrew D.,Shaw Katy,Stenson Peter D.,Cooper David N.,Tyler-Smith Chris

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. The Human Gene Mutation Database: 2008 update;Stenson;Genome Med,2009

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

3. SIFT: Predicting amino acid changes that affect protein function;Ng;Nucleic Acids Res.,2003

4. Carrier testing for severe childhood recessive diseases by next-generation sequencing;Bell;Sci. Transl. Med.,2011

5. The promise and reality of personal genomics;Yngvadottir;Genome Biol.,2009

Cited by 245 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration;Frontiers in Genetics;2024-06-14

2. Predisposing deleterious variants in the cancer-associated human kinases in the global populations;PLOS ONE;2024-04-18

3. Predicted genetic burden and frequency of phenotype-associated variants in the horse;Scientific Reports;2024-04-10

4. A method to estimate the contribution of rare coding variants to complex trait heritability;Nature Communications;2024-02-09

5. The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases—The Symptomatic Heterozygote Issue;Genes;2023-07-31