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Article

PERCH: A Unified Framework for Disease Gene Prioritization.

Human mutation - 1 Mar 2017

Feng Bing-Jian

Abstract excerpt

To interpret genetic variants discovered from next-generation sequencing, integration of heterogeneous information is vital for success. This article describes a framework named PERCH (Polymorphism Evaluation, Ranking, and Classification for a Heritable trait), available at http://BJFengLab.org/. It can prioritize disease genes by quantitatively unifying a new deleteriousness measure called BayesDel, an improved...

Topics

Computational Biology
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Polymorphism, Single Nucleotide
Quantitative Trait, Heritable
ROC Curve
Reproducibility of Results
Software

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27995669
DOI: 10.1002/humu.23158
PMCID: PMC5299048

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