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Genome Biol. 2011 Sep 14;12(9):228. doi: 10.1186/gb-2011-12-9-228.

Unlocking Mendelian disease using exome sequencing.

Author information

1
Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. c.gilissen@antrg.umcn.nl

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.

PMID:
21920049
PMCID:
PMC3308044
DOI:
10.1186/gb-2011-12-9-228
[Indexed for MEDLINE]
Free PMC Article

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