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

Abstract Background 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 t...

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Detalhes bibliográficos

Principais autores:	Joannella Morales, Aoife C. McMahon, Jane Loveland, Emily Perry, Adam Frankish, Sarah Hunt, Irina M. Armean, Paul Flicek, Fiona Cunningham
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2021-12-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	default transcript survey transcript annotation variant interpretation
Acesso em linha:	https://doi.org/10.1002/mgg3.1786
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