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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Bibliographic Details
Main Authors: Troy A. McDiarmid, Vinci Au, Aaron D. Loewen, Joseph Liang, Kota Mizumoto, Donald G. Moerman, Catharine H. Rankin
Format: Article
Language:English
Published: The Company of Biologists 2018-12-01
Series:Disease Models & Mechanisms
Subjects:
Online Access:http://dmm.biologists.org/content/11/12/dmm036517