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 CunninghamPublished 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.