Acknowledgements

The ANNOVAR software is originally designed by Dr. Kai Wang. Other developers and significant contributors include Dr. German Gaston Leparc, Paul Leo and Jamie Teer. The index-based filter operation were designed by Allen Day, Marine Huang and Stephen Weinberg at Ion Flux. Mehdi Pirooznia from Johnas Hopkins provided 1000g2012apr population-specific allele frequency files, Magali Olivier from International Agency for Research on Cancer and the COSMIC teamprovided COSMIC61 database and instructions on generating COSMIC63 database, Jun Ding from NIH/National Institute of Aging compiled human mitochondria gene annotation file on 1000 Genomes Project reference (GRCh37), Konrad Herbst from German Cancer Research Center compiled human mitochondria gene annotation file on UCSC hg19 coordiante (AF347015.1 or NC001807), Nancy F. Hansen from NIH/NHGRI provided patches to handle gzipped files. Numerous other ANNOVAR users have provided feedbacks, bug reports, code snipets and suggestions to improve the functionality of ANNOVAR and I am indebted to them for their invaluable help.

Citations

Wang K, Li M, Hakonarson H. ANNOVAR: Functional annotation of genetic variants from next-generation sequencing data Nucleic Acids Research, 38:e164, 2010