Discovery of mutations for Mendelian disorders

被引：46

作者：

Alkuraya, Fowzan S. ^{[1
,2
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[2] Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia

来源：

HUMAN GENETICS | 2016年 / 135卷 / 06期

关键词：

DE-NOVO MUTATIONS; DISEASE TYPE 4B3; INTELLECTUAL DISABILITY; CONSANGUINEOUS FAMILIES; PRIMORDIAL DWARFISM; GENOMIC ANALYSIS; GENE DISCOVERY; MOSAICISM; REVEALS; HUMANS;

D O I：

10.1007/s00439-016-1664-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mendelian mutations are the most medically actionable variants in the human genome and have always played a central role in its functional annotation. Despite the relative ease with which Mendelian mutations are identified compared to other classes of variants, the pace of their discovery has until recently been slow. However, recent technological advances in genomic sequencing have made the prospect of identifying all genes that can harbor Mendelian mutations an achievable near-term goal. The many lessons learned from previous discoveries of Mendelian mutations should inform future studies as I will discuss in this review. Also discussed are some of the challenges that will gain more prominence as we approach the last phase of the effort to map all Mendelian genes.

引用

页码：615 / 623

页数：9

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