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Transcript annotation tool (TransAT): an R package for retrieving annotations for transcript-specific genetic variants.

Ching-Yu ShihAmrita ChattopadhyayChien-Hui WuYu-Wen TienTzu-Pin Lu
Published 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.
Keyphrases
  • rna seq
  • primary care
  • case report
  • genome wide
  • single cell
  • health information
  • healthcare
  • gene expression
  • copy number
  • staphylococcus aureus
  • dna methylation
  • social media
  • electronic health record
  • adverse drug