Record added by Jurg Ott (the original Rockefeller list)
functional ANNOtation of genetic VARiants
ANNOVAR is an efficient software tool to utilize update-to-date information to functionally annotate genetic variants detected from diverse genomes (including human genome hg18, hg19, as well as mouse, worm, fly, yeast and many others). Given a list of variants with chromosome, start position, end position, reference nucleotide and observed nucleotides, ANNOVAR can perform: 1. gene-based annotation. 2. region-based annotation. 3. filter-based annotation. 4. other functionalities.
Kai Wang (Univ Pennsylvania)
Wang, Li, Hakonarson (2010), “ANNOVAR: Functional annotation of genetic variants from next-generation sequencing data”, Nucleic Acids Research, 38:e164.