GAVIN: Gene-Aware Variant INterpretation for medical sequencing
GAVIN: Gene-Aware Variant INterpretation for medical sequencing
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately classifies variants for clinical diagnostic purposes. Classifications are based on gene-specific calibrations of allele frequencies from the ExAC database, likely variant impact using SnpEff, and estimated deleteriousness based on CADD scores for >3000 genes. In a benchmark on 18 clinical gene sets, we achieve a sensitivity of 91.4% and a specificity of 76.9%. This accuracy is unmatched by 12 other tools. We provide GAVIN as an online MOLGENIS service to annotate VCF files and as an open source executable for use in bioinformatic pipelines. It can be found at http://molgenis.org/gavin ....
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Full title
GAVIN: Gene-Aware Variant INterpretation for medical sequencing
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5240400
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5240400
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ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-016-1141-7
