外显子组测序在散发性智力障碍中寻找新生突变。
Whole-exome sequencing for finding de novo mutations in sporadic mental retardation.
机构信息
Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
出版信息
Genome Biol. 2010;11(12):144. doi: 10.1186/gb-2010-11-12-144. Epub 2010 Dec 21.
Abstract
Recent work has used a family-based approach and whole-exome sequencing to identify de novo mutations in sporadic cases of mental retardation.
摘要
最近的研究采用基于家系的方法和全外显子测序技术，在散发的智力迟钝病例中鉴定了新生突变。
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