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

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 there is...

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Detalles Bibliográficos
Autores principales: Morales, Joannella, McMahon, Aoife C., Loveland, Jane, Perry, Emily, Frankish, Adam, Hunt, Sarah, Armean, Irina M., Flicek, Paul, Cunningham, Fiona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683622/
https://www.ncbi.nlm.nih.gov/pubmed/34435752
http://dx.doi.org/10.1002/mgg3.1786

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683622/
https://www.ncbi.nlm.nih.gov/pubmed/34435752
http://dx.doi.org/10.1002/mgg3.1786

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