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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants. To fill these unmet needs, we developed the ANNOVAR tool to annotate single nucleotide variants...

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Detalhes bibliográficos
Main Authors: Wang, Kai, Li, Mingyao, Hakonarson, Hakon
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2938201/
https://ncbi.nlm.nih.gov/pubmed/20601685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkq603
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