Description
ANNOVA is an efficient software tool to utilize update-to-date information to functionally annotategenetic variants detected from diverse genomes. Given a list of variants with chromosome, startposition, end position and observed nucleotides, ANNOVAR can identify whether SNPs or indels causeprotein coding changes and what is the amino acids that were changed, or identify variants inconserved genomic regions, or identify variants that are reported in dbSNP, or identify the subset ofcommon SNPs (MAF>1%) in the 1000 Genome Project, or identify subset of non-synonymous SNPswith SIFT score>0.05…
In a modern desktop computer (3GHz Intel Xeon CPU, 8Gb memory), for 4.7 million variants, ANNOVAR requires ~4 minutes to perform gene-based functional annotation, or ~15 minutes to perform stepwise “variants reduction” procedure, making it practical to handle hundreds of human genomes in a day.
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