TY  - JOUR
AU  - Requena, Teresa
AU  - Gallego-Martinez, Alvaro
AU  - Lopez-Escamez, Jose A
PY  - 2017
DO  - 10.1186/s40246-017-0107-5
UR  - http://hdl.handle.net/10668/11217
T2  - Human genomics
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...
LA  - en
KW  - Autosomal dominant diseases
KW  - Exome sequencing
KW  - Hearing loss
KW  - Human phenotype ontology
KW  - Meniere disease
KW  - Phenotype
KW  - Variants filtering
KW  - Algorithms
KW  - Computational Biology
KW  - Databases, Genetic
KW  - Exome
KW  - Heterozygote
KW  - Humans
KW  - Meniere Disease
KW  - Mutation
KW  - Phenotype
KW  - Software
KW  - Exome Sequencing
TI  - A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.
TY  - research article
VL  - 11
ER  -