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An Atlas of Variant Effects to understand the genome at nucleotide resolution

Sequencing has revealed hundreds of millions of human genetic variants, and continued efforts will only add to this variant avalanche. Insufficient information exists to interpret the effects of most variants, limiting opportunities for precision medicine and comprehension of genome function. A solu...

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Detalles Bibliográficos
Autores principales: Fowler, Douglas M., Adams, David J., Gloyn, Anna L., Hahn, William C., Marks, Debora S., Muffley, Lara A., Neal, James T., Roth, Frederick P., Rubin, Alan F., Starita, Lea M., Hurles, Matthew E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316620/
https://www.ncbi.nlm.nih.gov/pubmed/37394429
http://dx.doi.org/10.1186/s13059-023-02986-x