TY - JOUR
AU1 - Wang, Kai
AU2 - Li, Mingyao
AU3 - Hakonarson, Hakon
AB - 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, or identifying variants reported in the 1000 Genomes Project and dbSNP. ANNOVAR can utilize annotation databases from the UCSC Genome Browser or any annotation data set conforming to Generic Feature Format version 3 (GFF3). We also illustrate a variants reduction protocol on 4.7million SNVs and indels from a human genome, including two causal mutations for Miller syndrome, a rare recessive disease. Through a stepwise procedure, we excluded variants that are unlikely to be causal, and identified 20 candidate genes including the causal gene. Using a desktop computer, ANNOVAR requires 4min to perform gene-based annotation and 15min to perform variants reduction on 4.7million variants, making it practical to handle hundreds of human genomes in a day. ANNOVAR is freely available at http://www.openbioinformatics.org/annovar/.
TI - ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
JF - Nucleic Acids Research
DO - 10.1093/nar/gkq603
DA - 2010-09-03
UR - https://www.deepdyve.com/lp/oxford-university-press/annovar-functional-annotation-of-genetic-variants-from-high-throughput-DVIn6QjPY1
SP - e164
EP - e164
VL - 38
IS - 16
DP - DeepDyve
ER -