title: 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.
authors.affiliation: 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
authors.forename: Christian
authors.initials: C
authors.lastname: Gilissen
authors.forename: Alexander
authors.initials: A
authors.lastname: Hoischen
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
mesh_terms: D000483:Alleles; D056915:DNA Copy Number Variations; D019143:Evolution, Molecular; D059472:Exome; D056726:Genetic Association Studies; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017422:Sequence Analysis, DNA / Q000379:methods