Ontology highlight
ABSTRACT:
SUBMITTER: Walsh T
PROVIDER: S-EPMC2896776 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Walsh Tom T Shahin Hashem H Elkan-Miller Tal T Lee Ming K MK Thornton Anne M AM Roeb Wendy W Abu Rayyan Amal A Loulus Suheir S Avraham Karen B KB King Mary-Claire MC Kanaan Moien M
American journal of human genetics 20100617 1
Massively parallel sequencing of targeted regions, exomes, and complete genomes has begun to dramatically increase the pace of discovery of genes responsible for human disorders. Here we describe how exome sequencing in conjunction with homozygosity mapping led to rapid identification of the causative allele for nonsyndromic hearing loss DFNB82 in a consanguineous Palestinian family. After filtering out worldwide and population-specific polymorphisms from the whole exome sequence, only a single ...[more]