TransVar 2.4.0
:: DESCRIPTION
TransVar is multi-way annotator for genetic elements and genetic variations. It operates on genomic coordinates (e.g., chr3:g.178936091G>A) and transcript-dependent cDNA as well as protein coordinates (e.g., PIK3CA:p.E545K or PIK3CA:c.1633G>A, or NM_006218.2:p.E545K, or NP_006266.2:p.G240Afs*50), and was designed to resolve ambiguous mutation annotations arising from differential transcript usage.
::DEVELOPER
:: SCREENSHOTS
N/A
::Â Â REQUIREMENTS
- Linux
:: DOWNLOAD
:: MORE INFORMATION
Citation
Zhou W, Chen T, Chong Z, Rohrdanz MA, Melott JM, Wakefield C, Zeng J, Weinstein JN, Meric-Bernstam F, Mills GB, Chen K.
TransVar: a multilevel variant annotator for precision genomics.
Nat Methods. 2015 Nov;12(11):1002-3. doi: 10.1038/nmeth.3622. PMID: 26513549; PMCID: PMC4772859.