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Kars, Meltem Ece, Wu, Yiming, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Burisch, Johan, Peter, Inga and Itan, Yuval 2024. The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity. Genome Medicine 16 (1) , 66. 10.1186/s13073-024-01335-2
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Stein, David, Kars, Meltem Ece, Wu, Yiming, Bayrak, Çiğdem Sevim, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Schlessinger, Avner and Itan, Yuval 2023. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set. Genome Medicine 15 (1) , 103. 10.1186/s13073-023-01261-9
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Zhang, Peng, Chaldebas, Matthieu, Ogishi, Masato, Al Qureshah, Fahd, Ponsin, Khoren, Feng, Yi, Rinchai, Darawan, Milisavljevic, Baptiste, Han, Ji Eun, Moncada-Vélez, Marcela, Keles, Sevgi, Schröder, Bernd, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Cobat, Aurélie, Boisson, Bertrand, Zhang, Qian, Boisson-Dupuis, Stéphanie, Abel, Laurent and Casanova, Jean-Laurent 2023. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites. Proceedings of the National Academy of Sciences of the United States of America 120 (46) , e2314225120. 10.1073/pnas.2314225120
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Shao, Yong, Zhou, Long, Li, Fang, Zhao, Lan, Zhang, Bao-Lin, Shao, Feng, Chen, Jia-Wei, Chen, Chun-Yan, Bi, Xupeng, Zhuang, Xiao-Lin, Zhu, Hong-Liang, Hu, Jiang, Sun, Zongyi, Li, Xin, Wang, Depeng, Rivas-González, Iker, Wang, Sheng, Wang, Yun-Mei, Chen, Wu, Li, Gang, Lu, Hui-Meng, Liu, Yang, Kuderna, Lukas F. K., Farh, Kyle Kai-How, Fan, Peng-Fei, Yu, Li, Li, Ming, Liu, Zhi-Jin, Tiley, George P., Yoder, Anne D., Roos, Christian, Hayakawa, Takashi, Marques-Bonet, Tomas, Rogers, Jeffrey, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Schierup, Mikkel Heide, Yao, Yong-Gang, Zhang, Ya-Ping, Wang, Wen, Qi, Xiao-Guang, Zhang, Guojie and Wu, Dong-Dong 2023. Phylogenomic analyses provide insights into primate evolution. Science 380 (6648) , pp. 913-924. 10.1126/science.abn6919
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Wu, Yiming, Gettler, Kyle, Kars, Meltem Ece, Giri, Mamta, Li, Dalin, Bayrak, Cigdem Sevim, Zhang, Peng, Jain, Aayushee, Maffucci, Patrick, Sabic, Ksenija, Van Vleck, Tielman, Nadkarni, Girish, Denson, Lee A., Ostrer, Harry, Levine, Adam P., Schiff, Elena R., Segal, Anthony W., Kugathasan, Subra, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Philip Schumm, L., Snapper, Scott, Daly, Mark J., Haritunians, Talin, Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Brant, Steven R., McGovern, Dermot P. B., Cho, Judy H. and Itan, Yuval 2023. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients. Nature Communications 14 (1) , 2256. 10.1038/s41467-023-37849-3
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Fan, Cong, Chen, Ken, Wang, Yukai, Ball, Edward V., Stenson, Peter D., Mort, Matthew, Bacolla, Albino, Kehrer-Sawatzki, Hildegard, Tainer, John A., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 and Zhao, Huiying 2023. Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections. Human Genetics 142 , pp. 245-274. 10.1007/s00439-022-02500-6

Wu, Yiming, Bayrak, Cigdem Sevim, Dong, Bosi, He, Shixu, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Itan, Yuval and Chen, Lei 2023. Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans. Human Genetics 142 , pp. 275-288. 10.1007/s00439-022-02502-4
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Zhang, Peng, Philippot, Quentin, Ren, Weicheng, Lei, Wei-Te, Li, Juan, Stenson, Peter D., Palacín, Pere Soler, Colobran, Roger, Boisson, Bertrand, Zhang, Shen-Ying, Puel, Anne, Pan-Hammarström, Qiang, Zhang, Qian, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Abel, Laurent and Casanova, Jean-Laurent 2022. Genome-wide detection of human variants that disrupt intronic branchpoints. Proceedings of the National Academy of Sciences 119 (44) , e2211194119. 10.1073/pnas.2211194119
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Rastogi, Ruchir, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 and Bejerano, Gill 2022. X-CAP improves pathogenicity prediction of stopgain variants. Genome Medicine 14 (1) , 81. 10.1186/s13073-022-01078-y
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Qi, Mengling, Stenson, Peter D., Ball, Edward V., Tainer, John A., Bacolla, Albino, Kehrer-Sawatzki, Hildegard, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 and Zhao, Huiying 2022. Distinct sequence features underlie microdeletions and gross deletions in the human genome. Human Mutation 43 (3) , pp. 328-346. 10.1002/humu.24314
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Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Unger, Sheila, Superti-Furga, Andrea and Rivolta, Carlo 2022. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. American Journal of Human Genetics 109 (3) , pp. 457-470. 10.1016/j.ajhg.2022.01.006
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Serrano, Catarina, Teixeira, Carla S. S., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Carneiro, João, Lopes-Marques, Mónica, Stenson, Peter D., Amorim, António, Prata, Maria J., Sousa, Sérgio F. and Azevedo, Luísa 2021. Compensatory epistasis explored by molecular dynamics simulations. Human Genetics 140 (9) , pp. 1329-1342. 10.1007/s00439-021-02307-x
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Kars, M. Ece, Basak, A. Nazli, Onat, O. Emre, Bilguvar, Kaya, Choi, Jungmin, Itan, Yuval, Çalar, Caner, Palvadeau, Robin, Casanova, Jean-Laurent, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Stenson, Peter D., Yavuz, Alper, Bulus, Hakan, Günel, Murat, Friedman, Jeffrey M. and Özçelik, Tayfun 2021. The genetic structure of the Turkish population reveals high levels of variation and admixture. Proceedings of the National Academy of Sciences 118 (36) , e2026076118. 10.1073/pnas.2026076118
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Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D. and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139 , pp. 1197-1207. 10.1007/s00439-020-02199-3
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Rausell, Antonio, Luo, Yufei, Lopez, Marie, Seeleuthner, Yoann, Rapaport, Franck, Favier, Antoine, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Patin, Etienne, Casanova, Jean-Laurent, Quintana-Murci, Lluis and Abel, Laurent 2020. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Proceedings of the National Academy of Sciences 117 (24) , pp. 13626-13636. 10.1073/pnas.1917993117
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Birgmeier, Johannes, Haeussler, Maximilian, Deisseroth, Cole A., Steinberg, Ethan H., Jagadeesh, Karthik A., Ratner, Alexander J., Guturu, Harendra, Wenger, Aaron M., Diekhans, Mark E., Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Ré, Christopher, Beggs, Alan H., Bernstein, Jonathan A. and Bejerano, Gill 2020. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine 12 (544) , eaau9113. 10.1126/scitranslmed.aau9113
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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. ORCID: https://orcid.org/0000-0002-8943-8484, Wei, Xiaomu, Keinan, Alon, Schimenti, John C., Clark, Andrew G. and Yu, Haiyuan 2019. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Nature Communications 10 (1) , 4141. 10.1038/s41467-019-11959-3
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Zhang, Peng, Boisson, Bertrand, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Casanova, Jean-Laurent, Abel, Laurent and Itan, Yuval 2019. SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. Nucleic Acids Research 47 (W1) , W623-W631. 10.1093/nar/gkz326
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Jagadeesh, Karthik A., Paggi, Joseph M., Ye, James S., Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Bernstein, Jonathan A. and Bejerano, Gill 2019. S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing. Nature Genetics 51 (4) , pp. 755-763. 10.1038/s41588-019-0348-4
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Maffucci, Patrick, Bigio, Benedetta, Rapaport, Franck, Cobat, Aurélie, Borghesi, Alessandro, Lopez, Marie, Patin, Etienne, Bolze, Alexandre, Shang, Lei, Bendavid, Matthieu, Scott, Eric M., Stenson, Peter D., Cunningham-Rundles, Charlotte, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Gleeson, Joseph G., Fellay, Jacques, Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Boisson, Bertrand and Itan, Yuval 2019. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. Proceedings of the National Academy of Sciences 116 , pp. 950-959. 10.1073/pnas.1808403116
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Requena, David, Maffucci, Patrick, Bigio, Benedetta, Shang, Lei, Abhyankar, Avinash, Boisson, Bertrand, Stenson, Peter D, Cooper, David N ORCID: https://orcid.org/0000-0002-8943-8484, Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent, Abel, Laurent and Itan, Yuval 2018. CDG: an online server proposing biologically closest disease-causing genes and pathologies and its application to primary immunodeficiency. Frontiers in Immunology 9 , 1340. 10.3389/fimmu.2018.01340
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Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136 (6) , pp. 665-677. 10.1007/s00439-017-1779-6
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Liang, Siqi, Tippens, Nathaniel D., Zhou, Yaoda, Mort, Matthew, Stenson, Peter D., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Yu, Haiyuan 2017. iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biology 18 (1) , 10. 10.1186/s13059-016-1138-2
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Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G. and Exome Aggregation Consortium 2016. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536 , pp. 285-291. 10.1038/nature19057
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Meyer, Michael J., Lapcevic, Ryan, Romero, Alfonso E., Yoon, Mark, Das, Jishnu, Beltrán, Juan Felipe, Mort, Matthew, Stenson, Peter Daniel, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Paccanaro, Alberto and Yu, Haiyuan 2016. mutation3D: cancer gene prediction through atomic clustering of coding variants in the structural proteome. Human Mutation 37 (5) , pp. 447-456. 10.1002/humu.22963

Itan, Yuval, Shang, Lei, Boisson, Bertrand, Ciancanelli, Michael J, Markle, Janet G, Martinez-Barricarte, Ruben, Scott, Eric, Shah, Ishaan, Stenson, Peter Daniel, Gleeson, Joseph, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Quintana-Murci, Lluis, Zhang, Shen-Ying, Abel, Laurent and Casanova, Jean-Laurent 2016. The mutation significance cutoff: gene-level thresholds for variant predictions [Letter]. Nature Methods 13 (2) , pp. 109-110. 10.1038/nmeth.3739

Turner, Tychele N., Douville, Christopher, Kim, Dewey, Stenson, Peter Daniel, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Chakravarti, Aravinda and Karchin, Rachel 2015. Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. Human Molecular Genetics 24 (21) , pp. 5995-6002. 10.1093/hmg/ddv309

Douville, Christopher, Masica, David L., Stenson, Peter Daniel, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Gygax, Derek M., Kim, Rick, Ryan, Michael and Karchin, Rachel 2015. Assessing the pathogenicity of insertion and deletion variants with the Variant Effect Scoring Tool (VEST-Indel). Human Mutation 37 (1) , pp. 28-35. 10.1002/humu.22911
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The 1000 Genomes Project Consortium, Auton, Adam, Abecasis, Gonçalo R., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Ball, Edward V. and Stenson, Peter D. 2015. A global reference for human genetic variation. Nature 526 , pp. 68-74. 10.1038/nature15393
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Karageorgos, Ioannis, Mizzi, Clint, Giannopoulou, Efstathia, Pavlidis, Cristiana, Peters, Brock A., Zagoriti, Zoi, Stenson, Peter Daniel, Mitropoulos, Konstantinos, Borg, Joseph, Kalofonos, Haralabos P., Drmanac, Radoje, Stubbs, Andrew, van der Spek, Peter, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Katsila, Theodora and Patrinos, George P. 2015. Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach. Human Genomics 9 , 12. 10.1186/s40246-015-0034-2
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Johnston, Jennifer J., Lewis, Katie L., Ng, David, Singh, Larry N., Wynter, Jamila, Brewer, Carmen, Brooks, Brian P., Brownell, Isaac, Candotti, Fabio, Gonsalves, Steven G., Hart, Suzanne P., Kong, Heidi H., Rother, Kristina I., Sokolic, Robert, Solomon, Benjamin D., Zein, Wadih M., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Stenson, Peter Daniel, Mullikin, James C. and Biesecker, Leslie G. 2015. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. American Journal of Human Genetics 96 (6) , pp. 913-925. 10.1016/j.ajhg.2015.04.013

Rivas, Manuel A., Pirinen, Matti, Conrad, Donald F., Lek, Monkol, Tsang, Emily K., Karczewski, Konrad J., Maller, Julian B., Kukurba, Kimberly R., DeLuca, David S., Fromer, Menachem, Ferreira, Pedro G., Smith, Kevin S., Zhang, Rui, Zhao, Fengmei, Banks, Eric, Poplin, Ryan, Ruderfer, Douglas M., Purcell, Shaun M., Tukiainen, Taru, Minikel, Eric V., Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Huang, Katharine H., Sullivan, Timothy J., Nedzel, Jared, Bustamante, Carlos D., Li, Jin B., Daly, Mark J., Guigo, Roderic, Donnelly, Peter, Ardlie, Kristin, Sammeth, Michael, Dermitzakis, Emmanouil T., McCarthy, Mark I., Montgomery, Stephen B., Lappalainen, Tuuli and MacArthur, Daniel G. 2015. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 348 (6235) , pp. 666-669. 10.1126/science.1261877

Grimm, Dominik G., Azencott, Chloé-Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Stenson, Peter Daniel, Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E. and Borgwardt, Karsten M. 2015. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Human Mutation 36 (5) , pp. 513-523. 10.1002/humu.22768
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Chen, Yun-Ching, Douville, Christopher, Wang, Cheng, Niknafs, Noushin, Yeo, Grace, Beleva-Guthrie, Violeta, Carter, Hannah, Stenson, Peter Daniel, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Li, Biao, Mooney, Sean and Karchin, Rachel 2014. A probabilistic model to predict clinical phenotypic traits from genome sequencing. PLoS Computational Biology 10 (9) , e1003825. 10.1371/journal.pcbi.1003825
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Das, Jishnu, Lee, Hao Ran, Sagar, Adithya, Fragoza, Robert, Liang, Jin, Wei, Xiaomu, Wang, Xiujuan, Mort, Matthew, Stenson, Peter, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Yu, Haiyuan 2014. Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks. Human Mutation 35 (5) , pp. 585-593. 10.1002/humu.22534

Stenson, Peter, Mort, Matthew, Ball, Edward, Shaw, Katy, Phillips, Andrew and Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Human Genetics 133 (1) , pp. 1-9. 10.1007/s00439-013-1358-4

Gonsalves, S., Ng, D., Johnston, J., Teer, J., Stenson, Peter Daniel, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Mullikin, J. and Biesecker, L. 2013. Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology 119 (5) , pp. 1043-1053. 10.1097/ALN.0b013e3182a8a8e7

Niknafs, Noushin, Kim, Dewey, Kim, Ryang Guk, Diekhans, Mark, Ryan, Michael, Stenson, Peter Daniel, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Karchin, Rachel 2013. MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures. Human Genetics 132 (11) , pp. 1235-1243. 10.1007/s00439-013-1325-0

Douville, C., Carter, H., Kim, R., Niknafs, N., Diekhans, M., Stenson, Peter Daniel, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Ryan, M. and Karchin, R. 2013. CRAVAT: cancer-related analysis of variants toolkit. Bioinformatics 29 (5) , pp. 647-648. 10.1093/bioinformatics/btt017

Shihab, Hashem A., Gough, Julian, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Stenson, Peter Daniel, Barker, Gary L. A., Edwards, Keith J., Day, Ian N. M. and Gaunt, Tom R. 2013. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Human Mutation 34 (1) , pp. 57-65. 10.1002/humu.22225

Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Tyler-Smith, Chris 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. American Journal of Human Genetics 91 (6) , pp. 1022-1032. 10.1016/j.ajhg.2012.10.015

Stenson, Peter Daniel, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Shaw, Katy and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2012. The human gene mutation database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Current Protocols in Bioinformatics 39 , 1.13.1-1.13.20. 10.1002/0471250953.bi0113s39

Scally, Aylwyn, Dutheil, Julien Y., Hillier, LaDeana W., Jordan, Gregory E., Goodhead, Ian, Herrero, Javier, Hobolth, Asger, Lappalainen, Tuuli, Mailund, Thomas, Marques-Bonet, Tomas, McCarthy, Shane, Montgomery, Stephen H., Schwalie, Petra C., Tang, Y. Amy, Ward, Michelle C., Xue, Yali, Yngvadottir, Bryndis, Alkan, Can, Andersen, Lars N., Ayub, Qasim, Ball, Edward Vincent, Beal, Kathryn, Bradley, Brenda J., Chen, Yuan, Clee, Chris M., Fitzgerald, Stephen, Graves, Tina A., Gu, Yong, Heath, Paul, Heger, Andreas, Karakoc, Emre, Kolb-Kokocinski, Anja, Laird, Gavin K., Lunter, Gerton, Meader, Stephen, Mort, Matthew Edwin, Mullikin, James C., Munch, Kasper, O'Connor, Timothy D., Phillips, Andrew David, Prado-Martinez, Javier, Rogers, Anthony S., Sajjadian, Saba, Schmidt, Dominic, Shaw, Katy, Simpson, Jared T., Stenson, Peter Daniel, Turner, Daniel J., Vigilant, Linda, Vilella, Albert J., Whitener, Weldon, Zhu, Baoli, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, de Jong, Pieter, Dermitzakis, Emmanouil T., Eichler, Evan E., Flicek, Paul, Goldman, Nick, Mundy, Nicholas I., Ning, Zemin, Odom, Duncan T., Ponting, Chris P., Quail, Michael A., Ryder, Oliver A., Searle, Stephen M., Warren, Wesley C., Wilson, Richard K., Schierup, Mikkel H., Rogers, Jane, Tyler-Smith, Chris and Durbin, Richard 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483 (7388) , pp. 169-175. 10.1038/nature10842

McVean, Gil A., Altshuler (Co-Chair), David M., Durbin (Co-Chair), Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Donnelly, Peter, Eichler, Evan E., Flicek, Paul, Gabriel, Stacey B., Gibbs, Richard A., Green, Eric D., Hurles, Matthew E., Knoppers, Bartha M., Korbel, Jan O., Lander, Eric S., Lee, Charles, Lehrach, Hans, Mardis, Elaine R., Marth, Gabor T., McVean, Gil A., Nickerson, Deborah A., Schmidt, Jeanette P., Sherry, Stephen T., Wang, Jun, Wilson, Richard K., Gibbs (Principal Investigator), Richard A., Dinh, Huyen, Kovar, Christie, Lee, Sandra, Lewis, Lora, Muzny, Donna, Reid, Jeff, Wang, Min, Wang (Principal Investigator), Jun, Fang, Xiaodong, Guo, Xiaosen, Jian, Min, Jiang, Hui, Jin, Xin, Li, Guoqing, Li, Jingxiang, Li, Yingrui, Li, Zhuo, Liu, Xiao, Lu, Yao, Ma, Xuedi, Su, Zhe, Tai, Shuaishuai, Tang, Meifang, Wang, Bo, Wang, Guangbiao, Wu, Honglong, Wu, Renhua, Yin, Ye, Zhang, Wenwei, Zhao, Jiao, Zhao, Meiru, Zheng, Xiaole, Zhou, Yan, Lander (Principal Investigator), Eric S., Altshuler, David M., Gabriel (Co-Chair), Stacey B., Gupta, Namrata, Flicek (Principal Investigator), Paul, Clarke, Laura, Leinonen, Rasko, Smith, Richard E., Zheng-Bradley, Xiangqun, Bentley (Principal Investigator), David R., Grocock, Russell, Humphray, Sean, James, Terena, Kingsbury, Zoya, Lehrach (Principal Investigator), Hans, Sudbrak (Project Leader), Ralf, Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Borodina, Tatiana A., Lienhard, Matthias, Mertes, Florian, Sultan, Marc, Timmermann, Bernd, Yaspo, Marie-Laure, Sherry (Principal Investigator), Stephen T., McVean (Principal Investigator), Gil A., Mardis (Co-Principal Investigator) (Co-Chair), Elaine R., Wilson (Co-Principal Investigator), Richard K., Fulton, Lucinda, Fulton, Robert, Weinstock, George M., Durbin (Principal Investigator), Richard M., Balasubramaniam, Senduran, Burton, John, Danecek, Petr, Keane, Thomas M., Kolb-Kokocinski, Anja, McCarthy, Shane, Stalker, James, Quail, Michael, Schmidt (Principal Investigator), Jeanette P., Davies, Christopher J., Gollub, Jeremy, Webster, Teresa, Wong, Brant, Zhan, Yiping, Auton (Principal Investigator), Adam, Gibbs (Principal Investigator), Richard A., Yu (Project Leader), Fuli, Bainbridge, Matthew, Challis, Danny, Evani, Uday S., Lu, James, Muzny, Donna, Nagaswamy, Uma, Reid, Jeff, Sabo, Aniko, Wang, Yi, Yu, Jin, Wang (Principal Investigator), Jun, Coin, Lachlan J. M., Fang, Lin, Guo, Xiaosen, Jin, Xin, Li, Guoqing, Li, Qibin, Li, Yingrui, Li, Zhenyu, Lin, Haoxiang, Liu, Binghang, Luo, Ruibang, Qin, Nan, Shao, Haojing, Wang, Bingqiang, Xie, Yinlong, Ye, Chen, Yu, Chang, Zhang, Fan, Zheng, Hancheng, Zhu, Hongmei, Marth (Principal Investigator), Gabor T., Garrison, Erik P., Kural, Deniz, Lee, Wan-Ping, Fung Leong, Wen, Ward, Alistair N., Wu, Jiantao, Zhang, Mengyao, Lee (Principal Investigator), Charles, Griffin, Lauren, Hsieh, Chih-Heng, Mills, Ryan E., Shi, Xinghua, von Grotthuss, Marcin, Zhang, Chengsheng, Daly (Principal Investigator), Mark J., DePristo (Project Leader), Mark A., Altshuler, David M., Banks, Eric, Bhatia, Gaurav, Carneiro, Mauricio O., del Angel, Guillermo, Gabriel, Stacey B., Genovese, Giulio, Gupta, Namrata, Handsaker, Robert E., Hartl, Chris, Lander, Eric S., McCarroll, Steven A., Nemesh, James C., Poplin, Ryan E., Schaffner, Stephen F., Shakir, Khalid, Yoon (Principal Investigator), Seungtai C., Lihm, Jayon, Makarov, Vladimir, Jin (Principal Investigator), Hanjun, Kim, Wook, Cheol Kim, Ki, Korbel (Principal Investigator), Jan O., Rausch, Tobias, Flicek (Principal Investigator), Paul, Beal, Kathryn, Clarke, Laura, Cunningham, Fiona, Herrero, Javier, McLaren, William M., Ritchie, Graham R. S., Smith, Richard E., Zheng-Bradley, Xiangqun, Clark (Principal Investigator), Andrew G., Gottipati, Srikanth, Keinan, Alon, Rodriguez-Flores, Juan L., Sabeti (Principal Investigator), Pardis C., Grossman, Sharon R., Tabrizi, Shervin, Tariyal, Ridhi, Cooper Principal Investigator), David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Ball, Edward V., Stenson, Peter, Bentley (Principal Investigator), David R., Barnes, Bret, Bauer, Markus, Keira Cheetham, R., Cox, Tony, Eberle, Michael, Humphray, Sean, Kahn, Scott, Murray, Lisa, Peden, John, Shaw, Richard, Ye (Principal Investigator), Kai, Batzer (Principal Investigator), Mark A., Konkel, Miriam K., Walker, Jerilyn A., MacArthur (Principal Investigator), Daniel G., Lek, Monkol, Sudbrak (Project Leader), I., Amstislavskiy, Vyacheslav S., Herwig, Ralf, Shriver (Principal Investigator), Mark D., Bustamante (Principal Investigator), Carlos D., Byrnes, Jake K., De La Vega, Francisco M., Gravel, Simon, Kenny, Eimear E., Kidd, Jeffrey M., Lacroute, Phil, Maples, Brian K., Moreno-Estrada, Andres, Zakharia, Fouad, Halperin (Principal Investigator), Eran, Baran, Yael, Craig (Principal Investigator), David W., Christoforides, Alexis, Homer, Nils, Izatt, Tyler, Kurdoglu, Ahmet A., Sinari, Shripad A., Squire, Kevin, Sherry (Principal Investigator), Stephen T., Xiao, Chunlin, Sebat (Principal Investigator), Jonathan, Bafna, Vineet, Ye, Kenny, Burchard (Principal Investigator), Esteban G., Hernandez (Principal Investigator), Ryan D., Gignoux, Christopher R., Haussler (Principal Investigator), David, Katzman, Sol J., James Kent, W., Howie, Bryan, Ruiz-Linares (Principal Investigator), Andres, Dermitzakis (Principal Investigator), Emmanouil T., Lappalainen, Tuuli, Devine (Principal Investigator), Scott E., Liu, Xinyue, Maroo, Ankit, Tallon, Luke J., Rosenfeld (Principal Investigator), Jeffrey A., Michelson, Leslie P., Abecasis (Principal Investigator) (Co-Chair), Gonçalo R., Min Kang (Project Leader), Hyun, Anderson, Paul, Angius, Andrea, Bigham, Abigail, Blackwell, Tom, Busonero, Fabio, Cucca, Francesco, Fuchsberger, Christian, Jones, Chris, Jun, Goo, Li, Yun, Lyons, Robert, Maschio, Andrea, Porcu, Eleonora, Reinier, Fred, Sanna, Serena, Schlessinger, David, Sidore, Carlo, Tan, Adrian, Kate Trost, Mary, Awadalla (Principal Investigator), Philip, Hodgkinson, Alan, Lunter (Principal Investigator), Gerton, McVean (Principal Investigator) (Co-Chair), Gil A., Marchini (Principal Investigator), Jonathan L., Myers (Principal Investigator), Simon, Churchhouse, Claire, Delaneau, Olivier, Gupta-Hinch, Anjali, Iqbal, Zamin, Mathieson, Iain, Rimmer, Andy, Xifara, Dionysia K., Oleksyk (Principal Investigator), Taras K., Fu (Principal Investigator), Yunxin, Liu, Xiaoming, Xiong, Momiao, Jorde (Principal Investigator), Lynn, Witherspoon, David, Xing, Jinchuan, Eichler (Principal Investigator), Evan E., Browning (Principal Investigator), Brian L., Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Ko, Arthur, Sudmant, Peter H., Mardis (Co-Principal Investigator), Elaine R., Chen, Ken, Chinwalla, Asif, Ding, Li, Dooling, David, Koboldt, Daniel C., McLellan, Michael D., Wallis, John W., Wendl, Michael C., Zhang, Qunyuan, Durbin (Principal Investigator), Richard M., Hurles (Principal Investigator), Matthew E., Albers, Cornelis A., Ayub, Qasim, Balasubramaniam, Senduran, Chen, Yuan, Coffey, Alison J., Colonna, Vincenza, Danecek, Petr, Huang, Ni, Jostins, Luke, Keane, Thomas M., Li, Heng, McCarthy, Shane, Scally, Aylwyn, Stalker, James, Walter, Klaudia, Xue, Yali, Zhang, Yujun, Gerstein (Principal Investigator), Mark B., Abyzov, Alexej, Balasubramanian, Suganthi, Chen, Jieming, Clarke, Declan, Fu, Yao, Habegger, Lukas, Harmanci, Arif O., Jin, Mike, Khurana, Ekta, Jasmine Mu, Xinmeng, Sisu, Cristina, Li, Yingrui, Luo, Ruibang, Zhu, Hongmei, Lee (Principal Investigator) (Co-Chair), Charles, Griffin, Lauren, Hsieh, Chih-Heng, Mills, Ryan E., Shi, Xinghua, von Grotthuss, Marcin, Zhang, Chengsheng, Marth (Principal Investigator), Gabor T., Garrison, Erik P., Kural, Deniz, Lee, Wan-Ping, Ward, Alistair N., Wu, Jiantao, Zhang, Mengyao, McCarroll (Project Leader), Steven A., Altshuler, David M., Banks, Eric, del Angel, Guillermo, Genovese, Giulio, Handsaker, Robert E., Hartl, Chris, Nemesh, James C., Shakir, Khalid, Yoon (Principal Investigator), Seungtai C., Lihm, Jayon, Makarov, Vladimir, Degenhardt, Jeremiah, Flicek (Principal Investigator), Paul, Clarke, Laura, Smith, Richard E., Zheng-Bradley, Xiangqun, Korbel (Principal Investigator) (Co-Chair), Jan O., Rausch, Tobias, Stütz, Adrian M., Bentley (Principal Investigator), David R., Barnes, Bret, Keira Cheetham, R., Eberle, Michael, Humphray, Sean, Kahn, Scott, Murray, Lisa, Shaw, Richard, Ye (Principal Investigator), Kai, Batzer (Principal Investigator), Mark A., Konkel, Miriam K., Walker, Jerilyn A., Lacroute, Phil, Craig (Principal Investigator), David W., Homer, Nils, Church, Deanna, Xiao, Chunlin, Sebat (Principal Investigator), Jonathan, Bafna, Vineet, Michaelson, Jacob J., Ye, Kenny, Devine (Principal Investigator), Scott E., Liu, Xinyue, Maroo, Ankit, Tallon, Luke J., Lunter (Principal Investigator), Gerton, McVean (Principal Investigator), Gil A., Iqbal, Zamin, Witherspoon, David, Xing, Jinchuan, Eichler (Principal Investigator) (Co-Chair), Evan E., Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Ko, Arthur, Sudmant, Peter H., Chen, Ken, Chinwalla, Asif, Ding, Li, McLellan, Michael D., Wallis, John W., Hurles (Principal Investigator) (Co-Chair), Matthew E., Blackburne, Ben, Li, Heng, Lindsay, Sarah J., Ning, Zemin, Scally, Aylwyn, Walter, Klaudia, Zhang, Yujun, Gerstein (Principal Investigator), Mark B., Abyzov, Alexej, Chen, Jieming, Clarke, Declan, Khurana, Ekta, Jasmine Mu, Xinmeng, Sisu, Cristina, Gibbs (Principal Investigator) (Co-Chair), Richard A., Yu (Project Leader), Fuli, Bainbridge, Matthew, Challis, Danny, Evani, Uday S., Kovar, Christie, Lewis, Lora, Lu, James, Muzny, Donna, Nagaswamy, Uma, Reid, Jeff, Sabo, Aniko, Yu, Jin, Guo, Xiaosen, Li, Yingrui, Wu, Renhua, Marth (Principal Investigator) (Co-Chair), Gabor T., Garrison, Erik P., Fung Leong, Wen, Ward, Alistair N., del Angel, Guillermo, DePristo, Mark A., Gabriel, Stacey B., Gupta, Namrata, Hartl, Chris, Poplin, Ryan E., Clark (Principal Investigator), Andrew G., Rodriguez-Flores, Juan L., Flicek (Principal Investigator), Paul, Clarke, Laura, Smith, Richard E., Zheng-Bradley, Xiangqun, MacArthur (Principal Investigator), Daniel G., Bustamante (Principal Investigator), Carlos D., Gravel, Simon, Craig (Principal Investigator), David W., Christoforides, Alexis, Homer, Nils, Izatt, Tyler, Sherry (Principal Investigator), Stephen T., Xiao, Chunlin, Dermitzakis (Principal Investigator), Emmanouil T., Abecasis (Principal Investigator), Gonçalo R., Min Kang, Hyun, McVean (Principal Investigator), Gil A., Mardis (Principal Investigator), Elaine R., Dooling, David, Fulton, Lucinda, Fulton, Robert, Koboldt, Daniel C., Durbin (Principal Investigator), Richard M., Balasubramaniam, Senduran, Keane, Thomas M., McCarthy, Shane, Stalker, James, Gerstein (Principal Investigator), Mark B., Balasubramanian, Suganthi, Habegger, Lukas, Garrison, Erik P., Gibbs (Principal Investigator), Richard A., Bainbridge, Matthew, Muzny, Donna, Yu, Fuli, Yu, Jin, del Angel, Guillermo, Handsaker, Robert E., Makarov, Vladimir, Rodriguez-Flores, Juan L., Jin (Principal Investigator), Hanjun, Kim, Wook, Cheol Kim, Ki, Flicek (Principal Investigator), Paul, Beal, Kathryn, Clarke, Laura, Cunningham, Fiona, Herrero, Javier, McLaren, William M., Ritchie, Graham R. S., Zheng-Bradley, Xiangqun, Tabrizi, Shervin, MacArthur (Principal Investigator), Daniel G., Lek, Monkol, Bustamante (Principal Investigator), Carlos D., De La Vega, Francisco M., Craig (Principal Investigator), David W., Kurdoglu, Ahmet A., Lappalainen, Tuuli, Rosenfeld (Principal Investigator), Jeffrey A., Michelson, Leslie P., Awadalla (Principal Investigator), Philip, Hodgkinson, Alan, McVean (Principal Investigator), Gil A., Chen, Ken, Chen, Yuan, Colonna, Vincenza, Frankish, Adam, Harrow, Jennifer, Xue, Yali, Gerstein (Principal Investigator) (Co-Chair), Mark B., Abyzov, Alexej, Balasubramanian, Suganthi, Chen, Jieming, Clarke, Declan, Fu, Yao, Harmanci, Arif O., Jin, Mike, Khurana, Ekta, Jasmine Mu, Xinmeng, Sisu, Cristina, Gibbs (Principal Investigator), Richard A., Fowler, Gerald, Hale, Walker, Kalra, Divya, Kovar, Christie, Muzny, Donna, Reid, Jeff, Wang (Principal Investigator), Jun, Guo, Xiaosen, Li, Guoqing, Li, Yingrui, Zheng, Xiaole, Altshuler, David M., Flicek (Principal Investigator) (Co-Chair), Paul, Clarke (Project Leader), Laura, Barker, Jonathan, Kelman, Gavin, Kulesha, Eugene, Leinonen, Rasko, McLaren, William M., Radhakrishnan, Rajesh, Roa, Asier, Smirnov, Dmitriy, Smith, Richard E., Streeter, Ian, Toneva, Iliana, Vaughan, Brendan, Zheng-Bradley, Xiangqun, Bentley (Principal Investigator), David R., Cox, Tony, Humphray, Sean, Kahn, Scott, Sudbrak (Project Leader), Ralf, Albrecht, Marcus W., Lienhard, Matthias, Craig (Principal Investigator), David W., Izatt, Tyler, Kurdoglu, Ahmet A., Sherry (Principal Investigator) (Co-Chair), Stephen T., Ananiev, Victor, Belaia, Zinaida, Beloslyudtsev, Dimitriy, Bouk, Nathan, Chen, Chao, Church, Deanna, Cohen, Robert, Cook, Charles, Garner, John, Hefferon, Timothy, Kimelman, Mikhail, Liu, Chunlei, Lopez, John, Meric, Peter, O'Sullivan, Chris, Ostapchuk, Yuri, Phan, Lon, Ponomarov, Sergiy, Schneider, Valerie, Shekhtman, Eugene, Sirotkin, Karl, Slotta, Douglas, Xiao, Chunlin, Zhang, Hua, Haussler (Principal Investigator), David, Abecasis (Principal Investigator), Gonçalo R., McVean (Principal Investigator), Gil A., Alkan, Can, Ko, Arthur, Dooling, David, Durbin (Principal Investigator), Richard M., Balasubramaniam, Senduran, Keane, Thomas M., McCarthy, Shane, Stalker, James, Chakravarti (Co-Chair), Aravinda, Knoppers (Co-Chair), Bartha M., Abecasis, Gonçalo R., Barnes, Kathleen C., Beiswanger, Christine, Burchard, Esteban G., Bustamante, Carlos D., Cai, Hongyu, Cao, Hongzhi, Durbin, Richard M., Gharani, Neda, Gibbs, Richard A., Gignoux, Christopher R., Gravel, Simon, Henn, Brenna, Jones, Danielle, Jorde, Lynn, Kaye, Jane S., Keinan, Alon, Kent, Alastair, Kerasidou, Angeliki, Li, Yingrui, Mathias, Rasika, McVean, Gil A., Moreno-Estrada, Andres, Ossorio, Pilar N., Parker, Michael, Reich, David, Rotimi, Charles N., Royal, Charmaine D., Sandoval, Karla, Su, Yeyang, Sudbrak, Ralf, Tian, Zhongming, Timmermann, Bernd, Tishkoff, Sarah, Toji, Lorraine H., Tyler Smith, Chris, Via, Marc, Wang, Yuhong, Yang, Huanming, Yang, Ling, Zhu, Jiayong, Bodmer, Walter, Bedoya, Gabriel, Ruiz-Linares, Andres, Zhi Ming, Cai, Yang, Gao, Jia You, Chu, Peltonen, Leena, Garcia-Montero, Andres, Orfao, Alberto, Dutil, Julie, Martinez-Cruzado, Juan C., Oleksyk, Taras K., Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Clemm, Nicholas C., Duncanson, Audrey, Dunn, Michael, Green, Eric D., Guyer, Mark S., Peterson, Jane L., Abecasis, Goncalo R., Auton, Adam, Brooks, Lisa D., DePristo, Mark A., Durbin, Richard M., Handsaker, Robert E., Min Kang, Hyun, Marth, Gabor T. and McVean, Gil A. 2012. 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