Article

Comparison of aggregation methods for multiphenotype exomic variant prioritization

2016-07-20

Abstract excerpt

The identification of disease-causing genes in Mendelian disorders has been facilitated by the detection of rare disease-causing variation through exome sequencing experiments. These studies rely on population databases to filter a majority of the putatively neutral variation in the genome and additional filtering steps using either cohorts of diseased individuals or familial information to narrow down the list of...

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Literature Corpus work: fcacea90-25f9-58f7-bde4-620b939223b8
DOI: 10.1101/064899

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