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

2018-07-13

Abstract excerpt

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 significance. Here, we present a strategy for targeted human gene replacement and phenomic characterization based on C...

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Literature Corpus work
89142312-ed42-5549-bb1b-e4a8701eaffa
DOI
10.1101/369249
Open publication

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