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Comparison of aggregation methods for multiphenotype exomic variant prioritization

bioRxiv

Jul 20, 2016

Alejandro SifrimYves Moreau

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Abstract

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 gen...read more

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Study
Gene Mutant
Detection
Population Group
Genome
Aggregation
Phenotype Determination
Genes
Whole Exome Sequencing
Exome
10
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Comparison of aggregation methods for multiphenotype exomic variant prioritization

bioRxiv

Jul 20, 2016

Alejandro SifrimYves Moreau

DOI: 10.1101/064899

Abstract

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 gen...read more

Mentioned in this Paper

Study
Gene Mutant
Detection
Population Group
Genome
10

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