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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

REPOSITORIES: biostudies-literature

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Unlocking Mendelian disease using exome sequencing.

Gilissen Christian C   Hoischen Alexander A   Brunner Han G HG   Veltman Joris A JA  

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]

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