Cargando…
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...
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 |
Ejemplares similares
-
MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
por: Esposito, Daniel, et al.
Publicado: (2019) -
Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1
por: Zhou, Xiang, et al.
Publicado: (2023) -
Housecleaning of pyrimidine nucleotide pool coordinates metabolic adaptation of nongrowing Mycobacterium tuberculosis
por: Shi, Kun-Xiong, et al.
Publicado: (2019) -
Letter to the Editors: Concerning “Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state” by Takashi et al. and Letter to the Editors by Ortolano et al.
por: Schänzer, Anne, et al.
Publicado: (2017) -
Understanding chronic Covid-19
por: Milovac, Thomas
Publicado: (2022)