Article

VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms

2019-01-28

Abstract excerpt

<h4>Motivation</h4> In genomic medicine for rare disease patients, the primary goal is to identify one or more variants that cause their disease. Typically, this is done through filtering and then prioritization of variants for manual curation. However, prioritization of variants in rare disease patients remains a challenging task due to the high degree of variability in phenotype presentation and molecular sourc...

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Literature Corpus work: 90ab33af-7326-5b44-975c-240495793d2a
DOI: 10.1101/532440

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