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Nature Genetics, ISSN 1061-4036, 04/2019, Volume 51, Issue 4, pp. 755 - 763
Exome analysis of patients with a likely monogenic disease does not identify a causal variant in over half of cases. Splicedisrupting mutations make up the... 
CAPTURE | DIAGNOSTICS | GENETICS & HEREDITY | Research | Genetic variation | Bacteria, Pathogenic | RNA splicing | RNA | Pathogens | Disease | Splicing | Genomics | Tools | Genomes | Gene expression | Ribonucleic acid--RNA | Data bases | Pathogenicity | Genetic variance | Sensitivity | Semantics | Predictions | Mutation | Bioinformatics | Artificial intelligence | Index Medicus
Journal Article
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by Altshuler, David M and Durbin, Richard M and Abecasis, Gonçalo R and Bentley, David R and Chakravarti, Aravinda and Clark, Andrew G and Donnelly, Peter and Eichler, Evan E and Flicek, Paul and Gabriel, Stacey B and Gibbs, Richard A and Green, Eric D and Hurles, Matthew E and Knoppers, Bartha M and Korbel, Jan O and Lander, Eric S and Lee, Charles and Lehrach, Hans and Mardis, Elaine R and Marth, Gabor T and McVean, Gil A and Nickerson, Deborah A and Schmidt, Jeanette P and Sherry, Stephen T and Wang, Jun and Wilson, Richard K and Dinh, Huyen and Kovar, Christie and Lee, Sandra and Lewis, Lora and Muzny, Donna and Reid, Jeff and Wang, Min and Fang, Xiaodong and Guo, Xiaosen and Jian, Min and Jiang, Hui and Jin, Xin and Li, Guoqing and Li, Jingxiang and Li, Yingrui and Li, Zhuo and Liu, Xiao and Lu, Yao and Ma, Xuedi and Su, Zhe and Tai, Shuaishuai and Tang, Meifang and Wang, Bo and Wang, Guangbiao and Wu, Honglong and Wu, Renhua and Yin, Ye and Zhang, Wenwei and Zhao, Jiao and Zhao, Meiru and Zheng, Xiaole and Zhou, Yan and Gupta, Namrata and Clarke, Laura and Leinonen, Rasko and Smith, Richard E and Zheng-Bradley, Xiangqun and Grocock, Russell and Humphray, Sean and James, Terena and Kingsbury, Zoya and Sudbrak, Ralf and Albrecht, Marcus W and Amstislavskiy, Vyacheslav S and Borodina, Tatiana A and Lienhard, Matthias and Mertes, Florian and Sultan, Marc and Timmermann, Bernd and Yaspo, Marie-Laure and Fulton, Lucinda and Fulton, Robert and Weinstock, George M and Balasubramaniam, Senduran and Burton, John and Danecek, Petr and Keane, Thomas M and Kolb-Kokocinski, Anja and McCarthy, Shane and Stalker, James and Quail, Michael and Davies, Christopher J and Gollub, Jeremy and Webster, Teresa and Wong, Brant and Zhan, Yiping and Auton, Adam and Yu, Fuli and Bainbridge, Matthew and Challis, Danny and Evani, Uday S and Lu, James and Nagaswamy, Uma and Sabo, Aniko and ... and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 11/2012, Volume 491, Issue 7422, pp. 56 - 65
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