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

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 familial...

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Detalles Bibliográficos
Autores principales: Requena, Teresa, Gallego-Martinez, Alvaro, Lopez-Escamez, Jose A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441048/
https://www.ncbi.nlm.nih.gov/pubmed/28532469
http://dx.doi.org/10.1186/s40246-017-0107-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441048/
https://www.ncbi.nlm.nih.gov/pubmed/28532469
http://dx.doi.org/10.1186/s40246-017-0107-5

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