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GAVIN: Gene-Aware Variant INterpretation for medical sequencing
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 deleterious...
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| Veröffentlicht in: | Genome Biol |
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| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5240400/ https://ncbi.nlm.nih.gov/pubmed/28093075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-016-1141-7 |
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