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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| 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 |