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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

Mentioned in this Paper

Study
Genome
Genes
Aggregation
Protein Function
Whole Exome Sequencing
Sequencing
Protein Aggregation, Pathological
Rare Diseases
Gene Mutant
10
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Comparison of aggregation methods for multiphenotype exomic variant prioritization

bioRxiv

Jul 20, 2016

Alejandro SifrimYves Moreau

PMID: 990064899

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
Genome
Genes
Aggregation
Protein Function
Whole Exome Sequencing
Sequencing
Protein Aggregation, Pathological
Rare Diseases
Gene Mutant
10

Feeds With Similar Papers

Protein Function Prediction

Protein function prediction methods are techniques that bioinformatics researchers use to assign biological or biochemical roles to proteins. Discover the latest research on protein function prediction here.

Comparative Sequencing

Inter/Intra-Species: Comparative Sequencing describes the sequencing techniques that compare between and within species genomes. Discover the latest research on comparative sequencing of inter/intra-species here.

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