Article

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants

2018-05-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> An increasing number of Mendelian disorders have been identified for which two or more variants in one or more genes are required to cause the disease, or significantly modify its severity or phenotype. It is difficult to discover such interactions using existing approaches. The purpose of our work is to develop and evaluate a system that can identify combinations of variants u...

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Literature Corpus work: 8898621c-356c-5dc3-83ba-54a814f08c11
DOI: 10.1101/311654

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