Unlocking Mendelian disease using exome sequencing

作者：Christian Gilissen, Alexander Hoischen, Han G. Brunner, Joris A. Veltman · 发表于：Genome biology · 年份：2011 · DOI：10.1186/gb-2011-12-9-228 · 被引用次数：270 · 研究领域：Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities、Genetic factors in colorectal cancer

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.