Unlocking Mendelian disease using exome sequencing.

ABSTRACT: 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.

SUBMITTER: Gilissen C 

PROVIDER: S-EPMC3308044 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature