孟德尔基因发现：快速而激烈，没有尽头。
Mendelian Gene Discovery: Fast and Furious with No End in Sight.
机构信息
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
出版信息
Am J Hum Genet. 2019 Sep 5;105(3):448-455. doi: 10.1016/j.ajhg.2019.07.011.
Abstract
Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at scale have dramatically accelerated gene discovery and transformed genetic medicine. Finding the genetic basis of ∼6,000-13,000 MCs yet to be delineated will require both technical and computational innovation, but will rely to a larger extent on meaningful data sharing.
摘要
孟德尔疾病（MCs）的基因发现为理解基因组功能提供了一条直接途径。基于大规模应用的下一代测序的方法极大地加速了基因发现，并改变了遗传医学。要找到尚未确定的约 6000-13000 种 MC 的遗传基础，既需要技术和计算方面的创新，也需要在更大程度上进行有意义的数据共享。
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