A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

Abstract Background The identification of disease-causing variants in autosomal dominant diseases using exome-sequencing data remains a difficult task in small pedigrees. We combined several strategies to improve filtering and prioritizing of heterozygous variants using exome-sequencing datasets in...

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Bibliographic Details
Main Authors: Teresa Requena, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Human Genomics
Subjects:
Exome sequencing
Variants filtering
Phenotype
Autosomal dominant diseases
Human phenotype ontology
Hearing loss
Online Access:http://link.springer.com/article/10.1186/s40246-017-0107-5

Internet

http://link.springer.com/article/10.1186/s40246-017-0107-5

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