Article

Human and mouse essentiality screens as a resource for disease gene discovery

2019-06-24

Abstract excerpt

<h4>ABSTRACT</h4> Although genomic sequencing has been transformative in the study of rare genetic diseases, identifying causal variants remains a considerable challenge that can be addressed in part by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from the comprehensive viability and phenotyping screens performed on knockout mice by the Intern...

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Literature Corpus work: 2c590b5a-2a73-5b14-a63d-df61d1087785
DOI: 10.1101/678250

Open publication

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