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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| 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 |