Transcript annotation tool (TransAT): an R package for retrieving annotations for transcript-specific genetic variants.
Ching-Yu ShihAmrita ChattopadhyayChien-Hui WuYu-Wen TienTzu-Pin LuPublished in: BMC bioinformatics (2021)
TransAT is a novel tool that seamlessly provides genetic annotations for queried transcripts. Such easily obtainable information would be greatly advantageous for physicians, assisting them to make individualized decisions about specific drug treatments. Moreover, allele frequencies from user-chosen global ethnic populations will highlight the importance of ethnicity and its effect on patient pathogenicity.