Ontology highlight
ABSTRACT:
SUBMITTER: Gilissen C
PROVIDER: S-EPMC3308044 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Genome biology 20110914 9
Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease. ...[more]