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Critical assessment of missense variant effect predictors on disease-relevant variant data Rastogi, Ruchir; Chung, Ryan; Li, Sindy; Li, Chang; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Chennen, Kirsley; Weber, Thomas; Poch, Olivier; Ancien, Francois; Cia, Gabriel; Pucci, Fabrizio; Raimondi, Daniele; Vranken, Wim; Rooman, Marianne; Marquet, Celine; Olenyi, Tobias; Rost, Burkhard; Andreoletti, Gaia; Kamandula, Akash; Peng, Yisu; Bakolitsa, Constantina; Mort, Matthew; Cooper, David N.; Bergquist, Timothy; Pejaver, Vikas; Liu, Xiaoming; Radivojac, Predrag; Brenner, Steven E.; Ioannidis, Nilah M. Share Save
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score Chen, Robert; Duffy, Aine; Petrazzini, Ben O.; Vy, Ha My; Stein, David; Mort, Matthew; Park, Joshua K.; Schlessinger, Avner; Itan, Yuval; Cooper, David N.; Jordan, Daniel M.; Rocheleau, Ghislain; Do, Ron Share Save
Accurate identification fi cation of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework He, Dan; Li, Ling; Zhang, Huasong; Liu, Feiyi; Li, Shaoying; Xiu, Xuehao; Fan, Cong; Qi, Mengling; Meng, Meng; Ye, Junping; Mort, Matthew; Stenson, Peter D.; Cooper, David N.; Zhao, Huiying Share Save
PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis Meuser, Elena; Chang, Kyle; Walters, Angharad; Hurley, Joanna J.; West, Hannah D.; Perry, Iain; Mort, Matthew; Reyes-Uribe, Laura; Truscott, Rebekah; Jones, Nicholas; Lawrence, Rachel; Jenkins, Gareth; Giles, Peter; Dolwani, Sunil; Al-Sarireh, Bilal; Hawkes, Neil; Short, Emma; Williams, Geraint T.; Taggart, Melissa W.; Luetchford, Kim; Lynch, Patrick M.; Terlouw, Diantha; Nielsen, Maartje; Walton, Sarah-Jane; Latchford, Andrew; Clark, Susan K.; Sampson, Julian R.; Vilar, Eduardo; Thomas, Laura E. Share Save
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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods Jain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H.; Thi Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gokcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Mort, Matthew; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; LeBowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Tavtigian, Sean V.; Cole, Alina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Cline, Melissa S.; Pandey, Gaurav; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Clark, Wyatt T.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Tavtigian, Sean V.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Church, George M.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Tavtigian, Sean V.; Veltman, Joris; Zook, Justin M. Share Save
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications Duffy, Aine; Petrazzini, Ben Omega; Stein, David; Park, Joshua K.; Forrest, Iain S.; Gibson, Kyle; Vy, Ha My; Chen, Robert; Marquez-Luna, Carla; Mort, Matthew; Verbanck, Marie; Schlessinger, Avner; Itan, Yuval; Cooper, David N.; Rocheleau, Ghislain; Jordan, Daniel M.; Do, Ron Share Save
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections 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.; Zhao, Huiying Share Save
Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study Thomas, Laura E.; Hurley, Joanna J.; Sanchez, Angel Alonso; Aznarez, M. Rosario; Backman, Ann-Sofie; Bjork, Jan; Capella, Gabriel; Clark, Susan K.; Colas, Chrystelle; Dekker, Evelien; Dolwani, Sunil; Ghorbanoghli, Zeinab; Gonn, Mark; Romero, S. Gonzalez; Hes, Frederik J.; Jundi, Hala; Kelland, Sarah; Latchford, Andrew R.; Brito, Helena Leon; Lynch, Patrick M.; Meuser, Elena; Mork, Maureen E.; Mort, Matthew; Garcia, M. Navarro; Nielsen, Maartje; Parc, Yann; Ricci, Maria T.; Saurin, Jean-Christophe; van der Tuin, Karin; Vasen, Hans; Vilar, Eduardo; Vinet, Olivier; Vitellaro, Marco; Walton, Sarah-Jane; West, Hannah D.; Sampson, Julian R. Share Save
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Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin Bacolla, Albino; Sengupta, Shiladitya; Ye, Zu; Yang, Chunying; Mitra, Joy; De-Paula, Ruth B.; Hegde, Muralidhar L.; Ahmed, Zamal; Mort, Matthew; Cooper, David N.; Mitra, Sankar; Tainer, John A. Share Save
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 Pejaver, Vikas; Urresti, Jorge; Lugo-Martinez, Jose; Pagel, Kymberleigh A.; Lin, Guan Ning; Nam, Hyun-Jun; Mort, Matthew; Cooper, David N.; Sebat, Jonathan; Iakoucheva, Lilia M.; Mooney, Sean D.; Radivojac, Predrag Share Save
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The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting 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. Share Save
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes Ashton, James J.; Mossotto, Enrico; Stafford, Imogen S.; Haggarty, Rachel; Coelho, Tracy A. F.; Batra, Akshay; Afzal, Nadeem A.; Mort, Matthew; Bunyan, David; Beattie, Robert Mark; Ennis, Sarah Share Save
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants Lin, Hai; Hargreaves, Katherine A.; Li, Rudong; Reiter, Jill L.; Wang, Yue; Mort, Matthew; Cooper, David N.; Zhou, Yaoqi; Zhang, Chi; Eadon, Michael T.; Dolan, M. Eileen; Ipe, Joseph; Skaar, Todd C.; Liu, Yunlong Share Save
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations 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 Share Save
APC transcription studies and molecular diagnosis of familial adenomatous polyposis Short, Emma; Thomas, Laura E.; Davies, Alice; Bolton, Alice; Maynard, Julie; Giles, Peter; Mort, Matthew; Consoli, Claudia; Egner, Iris; Jundi, Hala; Sampson, Julian R. Share Save
First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild-type transcripts Lin, Jin-Huan; Tang, Xin-Ying; Boulling, Arnaud; Zou, Wen-Bin; Masson, Emmanuelle; Fichou, Yann; Raud, Loann; Le Tertre, Marlene; Deng, Shun-Jiang; Berlivet, Isabelle; Ka, Chandran; Mort, Matthew; Hayden, Matthew; Leman, Raphael; Houdayer, Claude; Le Gac, Gerald; Cooper, David N.; Li, Zhao-Shen; Ferec, Claude; Liao, Zhuan; Chen, Jian-Min Share Save
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