当前位置: X-MOL 学术Genet. Med. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-Oct-03 , DOI: 10.1038/s41436-018-0281-4
Matthew Neil Wakeling 1 , Thomas William Laver 1 , Caroline Fiona Wright 1 , Elisa De Franco 1 , Karen Lucy Stals 2 , Ann-Marie Patch 3 , Andrew Tym Hattersley 1 , Sarah Elizabeth Flanagan 1 , Sian Ellard 1, 2 ,
Affiliation  

One of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test. We investigate the predictive ability of homozygosity mapping for identifying the regions likely to contain the causative variant.

中文翻译:

纯合子作图为隐性孟德尔病的致病性提供了支持性证据。

目前研究孟德尔病的人面临的最大挑战之一是从下一代测序测试产生的长列表中识别致病变异。我们研究了纯合子映射对识别可能包含致病变异的区域的预测能力。
更新日期:2018-10-03
down
wechat
bug