Article
Unlocking Mendelian disease using exome sequencing.
Genome biology - 14 Sept 2011
Gilissen Christian, Hoischen Alexander, Brunner Han G, Veltman Joris A
Abstract excerpt
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.
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