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

@inproceedings{Wang2010ANNOVARFA,
  title={ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data},
  author={Kai Wang and Mingyao Li and Hakon Hakonarson},
  booktitle={Nucleic acids research},
  year={2010}
}
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 (SNVs) and insertions/deletions, such as examining their functional consequence on genes, inferring cytogenetic bands, reporting functional importance scores, finding variants in conserved regions… CONTINUE READING