CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance

Our ability to sequence genomes has vastly surpassed our ability to interpret the genetic variation we discover. This presents a major challenge in the clinical setting, where the recent application of whole-exome and whole-genome sequencing has uncovered thousands of genetic variants of uncertain s...

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Detalles Bibliográficos
Autores principales: McDiarmid, Troy A., Au, Vinci, Loewen, Aaron D., Liang, Joseph, Mizumoto, Kota, Moerman, Donald G., Rankin, Catharine H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2018
Materias:
Resource Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307914/
https://www.ncbi.nlm.nih.gov/pubmed/30361258
http://dx.doi.org/10.1242/dmm.036517

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307914/
https://www.ncbi.nlm.nih.gov/pubmed/30361258
http://dx.doi.org/10.1242/dmm.036517

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