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April 15, 2013 (Vol. 33 , No. 8)

Genetic Variant Annotation Software

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BIOBASE Biological Databases

Annovar® is a command-line tool that uses information to functionally annotate genetic variants from high-throughput sequencing data detected from different genomes (including human genome hg18, hg19, as well as mouse, worm, fly, yeast, and others). It's compatible with Genome Trax™ and, when combined, users can identify and annotate known disease-causing inherited mutations using the capabilities of HGMD®. They can also identify known transcription factor binding sites and pathway, drug, and disease relations.

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