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A method for scoring the cell type-specific impacts of noncoding variants in personal genomes

A person’s genome typically contains millions of variants which represent the differences between this personal genome and the reference human genome. The interpretation of these variants, i.e., the assessment of their potential impact on a person’s phenotype, is currently of great interest in human...

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Detalles Bibliográficos
Autores principales: Li, Wenran, Duren, Zhana, Jiang, Rui, Wong, Wing Hung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474608/
https://www.ncbi.nlm.nih.gov/pubmed/32817564
http://dx.doi.org/10.1073/pnas.1922703117