article Open AccessTop 1% cited
A general framework for estimating the relative pathogenicity of human genetic variants
Nature Genetics · 2014 · Vol. 46(3) · pp. 310–315
Martin Kircher✉(University of Washington)Daniela Witten(University of Washington)Preti Jain(HudsonAlpha Institute for Biotechnology)Brian J. O’Roak(University of Washington)Gregory M. Cooper(HudsonAlpha Institute for Biotechnology)Jay Shendure(University of Washington)
Genomics and Rare DiseasesGenetic Associations and EpidemiologyGenomics and Chromatin DynamicsBiologyAnnotationMissense mutationAlleleComputational biologyGeneticsHuman genetic variationHuman genomeTraitSingle-nucleotide polymorphism
MeSH terms
HumansModels, GeneticSelection, GeneticGenetic VariationGenome, HumanPolymorphism, Single NucleotideINDEL MutationGenome-Wide Association StudyMolecular Sequence AnnotationSupport Vector Machine
Funding
- National Institutes of Health
Citations
6,465
FWCI
325.28
field-weighted impact
References
64
Percentile
100%
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Citations per year
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PLoS Genetics · 2010 · 1,408 citations
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
PLoS Computational Biology · 2010 · 1,854 citations
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Nature Methods · 2010 · 13,461 citations
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Genome Research · 1998 · 5,532 citations
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Nucleic Acids Research · 2003 · 6,783 citations
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Genome Research · 2005 · 4,259 citations
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