Article

THE VALUE OF PRIMARY TRANSCRIPTS TO THE CLINICAL AND NON-CLINICAL GENOMICS COMMUNITY: SURVEY RESULTS AND ROADMAP FOR IMPROVEMENTS. AUTHORS

2021-04-21

Abstract excerpt

Variant interpretation is dependent on transcript annotation and remains time consuming and challenging. There are major obstacles for historical data reuse and for interpretation of new variants. First, both RefSeq and Ensembl/GENCODE produce transcript sets in common use, but there is currently no easy way to translate between the two. Second, the resources often used for variant interpretation (e.g., ClinVar, g...

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Literature Corpus work: 9aac179f-f502-5332-b1d6-b7cacf99890d
DOI: 10.22541/au.161901710.08079318/v1

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