Concepedia

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale, David Bick, Soma Das, Julie M. Gastier‐Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,

Genetics in Medicine · 2015 · 32.2K citations · 41 references

Open access

References

41

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

Life Sciences, Bioinformatics, Molecular Biology +15

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean V. Murphy et al. · PLoS ONE · 2012 · 3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

Mannis van Oven, Manfred Kayser · Human Mutation · 2008 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

Leonid Kruglyak · Nature Genetics · 1999 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +13