Unlocking Mendelian disease using exome sequencing

被引：185

作者：

Gilissen, Christian ^{[1
]}

Hoischen, Alexander

Brunner, Han G.

Veltman, Joris A.

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands

来源：

GENOME BIOLOGY | 2011年 / 12卷 / 09期

关键词：

COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC-FIBROSIS GENE; DE-NOVO MUTATIONS; MENTAL-RETARDATION; NOTCH2; CAUSE; HEARING-LOSS; DNA; DISORDER; REVEALS; IDENTIFICATION;

D O I：

10.1186/gb-2011-12-9-228

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

引用

页数：11

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