TY - JOUR AU - Requena, Teresa AU - Gallego-Martinez, Alvaro AU - Lopez-Escamez, Jose A. PY - 2017 DA - 2017/05/22 TI - A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets JO - Human Genomics SP - 11 VL - 11 IS - 1 AB - 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 Meniere disease: an in-house Pathogenic Variant (PAVAR) score, the Variant Annotation Analysis and Search Tool (VAAST-Phevor), Exomiser-v2, CADD, and FATHMM. We also validated the method by a benchmarking procedure including causal mutations in synthetic exome datasets. SN - 1479-7364 UR - https://doi.org/10.1186/s40246-017-0107-5 DO - 10.1186/s40246-017-0107-5 ID - Requena2017 ER -