Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases-Reference-Cited by-同舟云学术

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Published:2015-08-14 Issue:8 Volume:10 Page:e0133636
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Liu Yanqiu,Wei Xiaoming,Kong Xiangdong,Guo Xueqin,Sun Yan,Man Jianfen,Du Lique,Zhu Hui,Qu Zelan,Tian Ping,Mao Bing,Yang Yun

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference30 articles.

1. Monogenic disorders;C Carter;J Med Genet,1977

2. Human monogenic disorders—a source of novel drug targets;RR Brinkman;Nature reviews Genetics,2006

3. Sequencing technologies—the next generation;ML Metzker;Nature reviews Genetics,2010

4. Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating;J Qing;PloS one,2014

5. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Y Yang;The New England journal of medicine,2013

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