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The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.

Joannella MoralesAoife C McMahonJane E LovelandEmily PerryAdam FrankishSarah E HuntIrina M ArmeanPaul FlicekFiona Cunningham
Published in: Molecular genetics & genomic medicine (2021)
We present our roadmap to create an effective default set of transcripts for resources, and for reporting interpretation of clinical variants.
Keyphrases
  • healthcare
  • emergency department
  • gene expression
  • single cell
  • copy number
  • drug induced