The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies von Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew D., Cooper, David N.

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The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting von Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D., Cooper, David N.

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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity von Jagadeesh, Karthik A, Wenger, Aaron M, Berger, Mark J, Guturu, Harendra, Stenson, Peter D, Cooper, David N, Bernstein, Jonathan A, Bejerano, Gill

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine von Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.

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Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models von Shihab, Hashem A., Gough, Julian, Cooper, David N., Stenson, Peter D., Barker, Gary L. A., Edwards, Keith J., Day, Ian N. M., Gaunt, Tom R.

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Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing von Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David N., Tyler-Smith, Chris

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The mutation significance cutoff: gene-level thresholds for variant predictions von Itan, Yuval, Shang, Lei, Boisson, Bertrand, Ciancanelli, Michael J, Markle, Janet G, Martinez-Barricarte, Ruben, Scott, Eric, Shah, Ishaan, Stenson, Peter D, Gleeson, Joseph, Cooper, David N, Quintana-Murci, Lluis, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent

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The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity von Grimm, Dominik G., Azencott, Chloé-Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David N., Stenson, Peter D., Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E., Borgwardt, Karsten M.

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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity von Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo

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The genetic structure of the Turkish population reveals high levels of variation and admixture von Kars, M. Ece, Başak, A. Nazlı, Onat, O. Emre, Bilguvar, Kaya, Choi, Jungmin, Itan, Yuval, Çağlar, Caner, Palvadeau, Robin, Casanova, Jean-Laurent, Cooper, David N., Stenson, Peter D., Yavuz, Alper, Buluş, Hakan, Günel, Murat, Friedman, Jeffrey M., Özçelik, Tayfun

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The human gene damage index as a gene-level approach to prioritizing exome variants von Itan, Yuval, Shang, Lei, Boisson, Bertrand, Patin, Etienne, Bolze, Alexandre, Moncada-Vélez, Marcela, Scott, Eric, Ciancanelli, Michael J., Lafaille, Fabien G., Markle, Janet G., Martinez-Barricarte, Ruben, de Jong, Sarah Jill, Kong, Xiao-Fei, Nitschke, Patrick, Belkadi, Aziz, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Stenson, Peter D., Gleeson, Joseph G., Cooper, David N., Quintana-Murci, Lluis, Claverie, Jean-Michel, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent

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The Human Gene Mutation Database: 2008 update von Stenson, Peter D, Mort, Matthew, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Thomas, Nick St, Cooper, David N

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CRAVAT: cancer-related analysis of variants toolkit von Douville, Christopher, Carter, Hannah, Kim, Rick, Niknafs, Noushin, Diekhans, Mark, Stenson, Peter D, Cooper, David N, Ryan, Michael, Karchin, Rachel

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations von Fragoza, Robert, Das, Jishnu, Wierbowski, Shayne D., Liang, Jin, Tran, Tina N., Liang, Siqi, Beltran, Juan F., Rivera-Erick, Christen A., Ye, Kaixiong, Wang, Ting-Yi, Yao, Li, Mort, Matthew, Stenson, Peter D., Cooper, David N., Wei, Xiaomu, Keinan, Alon, Schimenti, John C., Clark, Andrew G., Yu, Haiyuan

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Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques von Yan, Guangmei, Wang, Xiaoning, Wang, Jian, Zhang, Guojie, Fang, Xiaodong, Zhang, Yanfeng, Li, Cai, Ling, Fei, Cooper, David N, Li, Qiye, Li, Yan, van Gool, Alain J, Du, Hongli, Chen, Jiesi, Chen, Ronghua, Zhang, Pei, Huang, Zhiyong, Thompson, John R, Meng, Yuhuan, Bai, Yinqi, Wang, Jufang, Zhuo, Min, Wang, Tao, Huang, Ying, Wei, Liqiong, Li, Jianwen, Wang, Zhiwen, Hu, Haofu, Yang, Pengcheng, Le, Liang, Stenson, Peter D, Li, Bo, Liu, Xiaoming, Ball, Edward V, An, Na, Huang, Quanfei, Zhang, Yong, Fan, Wei, Zhang, Xiuqing, Li, Yingrui, Wang, Wen, Katze, Michael G, Su, Bing, Nielsen, Rasmus, Yang, Huanming, Wang, Jun

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X-CAP improves pathogenicity prediction of stopgain variants von Rastogi, Ruchir, Stenson, Peter D, Cooper, David N, Bejerano, Gill

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Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set von Stein, David, Kars, Meltem Ece, Wu, Yiming, Bayrak, Çiğdem Sevim, Stenson, Peter D, Cooper, David N, Schlessinger, Avner, Itan, Yuval

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The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity von Kars, Meltem Ece, Wu, Yiming, Stenson, Peter D, Cooper, David N, Burisch, Johan, Peter, Inga, Itan, Yuval

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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics von Cooper, David N, Chen, Jian-Min, Ball, Edward V, Howells, Katy, Mort, Matthew, Phillips, Andrew D, Chuzhanova, Nadia, Krawczak, Michael, Kehrer-Sawatzki, Hildegard, Stenson, Peter D

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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns von Turner, Tychele N, Douville, Christopher, Kim, Dewey, Stenson, Peter D, Cooper, David N, Chakravarti, Aravinda, Karchin, Rachel

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