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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
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function Loeb, Gabriel B.; Kathail, Pooja; Shuai, Richard W.; Chung, Ryan; Grona, Reinier J.; Peddada, Sailaja; Sevim, Volkan; Federman, Scot; Mader, Karl; Chu, Audrey Y.; Davitte, Jonathan; Du, Juan; Gupta, Alexander R.; Ye, Chun Jimmie; Shafer, Shawn; Przybyla, Laralynne; Rapiteanu, Radu; Ioannidis, Nilah M.; Reiter, Jeremy F. Share Save
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Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer Schaid, Daniel J.; McDonnell, Shannon K.; FitzGerald, Liesel M.; DeRycke, Lissa; Fogarty, Zachary; Giles, Graham G.; MacInnis, Robert J.; Southey, Melissa C.; Nguyen-Dumont, Tu; Cancel-Tassin, Geraldine; Cussenot, Oliver; Whittemore, Alice S.; Sieh, Weiva; Ioannidis, Nilah Monnier; Hsieh, Chih-Lin; Stanford, Janet L.; Schleutker, Johanna; Cropp, Cheryl D.; Carpten, John; Hoegel, Josef; Eeles, Rosalind; Kote-Jarai, Zsofia; Ackerman, Michael J.; Klein, Christopher J.; Mandal, Diptasri; Cooney, Kathleen A.; Bailey-Wilson, Joan E.; Helfand, Brian; Catalona, William J.; Wiklund, Fredrick; Riska, Shaun; Bahetti, Saurabh; Larson, Melissa C.; Albright, Lisa Cannon; Teerlink, Craig; Xu, Jianfeng; Isaacs, William; Ostrander, Elaine A.; Thibodeau, Stephen N. Share Save
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases Liu, Wei; Pajusalu, Sander; Lake, Nicole J.; Zhou, Geyu; Ioannidis, Nilah; Mittal, Plavi; Johnson, Nicholas E.; Weihl, Conrad C.; Williams, Bradley A.; Albrecht, Douglas E.; Rufibach, Laura E.; Lek, Monkol Share Save
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants Ioannidis, Nilah M.; Rothstein, Joseph H.; Pejaver, Vikas; Middha, Sumit; McDonnell, Shannon K.; Baheti, Saurabh; Musolf, Anthony; Li, Qing; Holzinger, Emily; Karyadi, Danielle; Cannon-Albright, Lisa A.; Teerlink, Craig C.; Stanford, Janet L.; Isaacs, William B.; Xu, Jianfeng; Cooney, Kathleen A.; Lange, Ethan M.; Schleutker, Johanna; Carpten, John D.; Powell, Isaac J.; Cussenot, Olivier; Cancel-Tassin, Geraldine; Giles, Graham G.; MacInnis, Robert J.; Maier, Christiane; Hsieh, Chih-Lin; Wiklund, Fredrik; Catalona, William J.; Foulkes, William D.; Mandal, Diptasri; Eeles, Rosalind A.; Kote-Jarai, Zsofia; Bustamante, Carlos D.; Schaid, Daniel J.; Hastie, Trevor; Ostrander, Elaine A.; Bailey-Wilson, Joan E.; Radivojac, Predrag; Thibodeau, Stephen N.; Whittemore, Alice S.; Sieh, Weiva Share Save
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