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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
The American Journal of Human Genetics · 2017 · Vol. 100(2) · pp. 267–280
Genomics and Rare DiseasesBiomedical Text Mining and OntologiesGenomics and Phylogenetic StudiesInterpretation (philosophy)Medical geneticsComputer scienceSuitePenetranceInterpreterGenomicsArtificial intelligenceBioinformaticsProgramming language
MeSH terms
AlgorithmsGenetic TestingHumansSoftwareGenetic VariationGenome, HumanComputational BiologyEvidence-Based MedicineMutation, MissenseGenomicsDatabases, GeneticMolecular Sequence AnnotationHigh-Throughput Nucleotide SequencingNeurodevelopmental Disorders
Funding
- National Institutes of Health
Citations
1,074
FWCI
68.70
field-weighted impact
References
61
Percentile
100%
vs. same field & year
Citations per year
References
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Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
The American Journal of Human Genetics · 2011 · 774 citations
A method and server for predicting damaging missense mutations
Nature Methods · 2010 · 13,461 citations
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
Science Translational Medicine · 2011 · 706 citations
MutationTaster evaluates disease-causing potential of sequence alterations
Nature Methods · 2010 · 3,042 citations
A global reference for human genetic variation
Nature · 2015 · 19,538 citations
wANNOVAR: annotating genetic variants for personal genomes via the web
Journal of Medical Genetics · 2012 · 456 citations
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