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Guidelines for releasing a variant effect predictor 变异效应预测器的发布指南 Livesey, Benjamin J.; Badonyi, Mihaly; Dias, Mafalda; Frazer, Jonathan; Kumar, Sushant; Lindorff-Larsen, Kresten; Mccandlish, David M.; Orenbuch, Rose; Shearer, Courtney A.; Muffley, Lara; Foreman, Julia; Glazer, Andrew M.; Lehner, Ben; Marks, Debora S.; Roth, Frederick P.; Rubin, Alan F.; Starita, Lea M. 分享 收藏
MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays MaveDB 2024：一个经过整理的社区数据库，包含来自多重功能实验的超过七百万个变异效应。 Rubin, Alan F.; Stone, Jeremy; Bianchi, Aisha Haley; Capodanno, Benjamin J.; Da, Estelle Y.; Dias, Mafalda; Esposito, Daniel; Frazer, Jonathan; Fu, Yunfan; Grindstaff, Sally B.; Harrington, Matthew R.; Li, Iris; Mcewen, Abbye E.; Min, Joseph K.; Moore, Nick; Moscatelli, Olivia G.; Ong, Jesslyn; Polunina, Polina V.; Rollins, Joshua E.; Rollins, Nathan J.; Snyder, Ashley E.; Tam, Amy; Wakefield, Matthew J.; Starita, Lea M.; Bryant, Vanessa L.; Marks, Debora S.; Fowler, Douglas M. 分享 收藏
Proinsulin C-peptide is a major source of HLA-DQ8 restricted hybrid insulin peptides recognized by human islet-infiltrating CD4+ T cells Bhattacharjee, Pushpak; Pakusch, Miha; Lacorcia, Matthew; Tresoldi, Eleonora; Rubin, Alan F.; Foster, Abby; King, Laura; Chiu, Chris Y.; Kay, Thomas W. H.; Karas, John A.; Cameron, Fergus J.; Mannering, Stuart, I 分享 收藏
Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff Boyle, Gabriel E.; Sitko, Katherine A.; Galloway, Jared G.; Haddox, Hugh K.; Bianchi, Aisha Haley; Dixon, Ajeya; Wheelock, Melinda K.; Vandi, Allyssa J.; Wang, Ziyu R.; Thomson, Raine E. S.; Garge, Riddhiman K.; Rettie, Allan E.; Rubin, Alan F.; Geck, Renee C.; Gillam, Elizabeth M. J.; Dewitt, William S.; Matsen, Frederick A.; Fowler, Douglas M. 分享 收藏
Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures Genomics 2 Proteins portal: 用于将遗传筛选输出与蛋白质序列和结构联系起来的资源和发现工具 Kwon, Seulki; Safer, Jordan; Nguyen, Duyen T.; Hoksza, David; May, Patrick; Arbesfeld, Jeremy A.; Rubin, Alan F.; Campbell, Arthur J.; Burgin, Alex; Iqbal, Sumaiya 分享 收藏
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Minimum information and guidelines for reporting a multiplexed assay of variant effect Claussnitzer, Melina; Parikh, Victoria N.; Wagner, Alex H.; Arbesfeld, Jeremy A.; Bult, Carol J.; Firth, Helen V.; Muffley, Lara A.; Ba, Alex N. Nguyen; Riehle, Kevin; Roth, Frederick P.; Tabet, Daniel; Bolognesi, Benedetta; Glazer, Andrew M.; Rubin, Alan F. 分享 收藏
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023 研讨会报告: 2023年7月12日变异效应多重分析 (MAVEs) 数据的临床应用 Allen, Sophie; Garrett, Alice; Muffley, Lara; Fayer, Shawn; Foreman, Julia; Adams, David J.; Hurles, Matthew; Rubin, Alan F.; Roth, Frederick P.; Starita, Lea M.; Biesecker, Leslie G.; Turnbull, Clare 分享 收藏
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sccomp: Robust differential composition and variability analysis for single- cell data sccomp: 单细胞数据的稳健差分组成和变异性分析 Mangiola, Stefano; Roth-Schulze, Alexandra J.; Trussart, Marie; Zozaya-Valdes, Enrique; Ma, Mengyao; Gao, Zijie; Rubin, Alan F.; Speed, Terence P.; Shim, Heejung; Papenfuss, Anthony T. 分享 收藏
An Atlas of Variant Effects to understand the genome at nucleotide resolution 以核苷酸分辨率理解基因组的变异效应图集 Fowler, Douglas M.; Adams, David J.; Gloyn, Anna L.; Hahn, William C.; Marks, Debora S.; Muffley, Lara A.; Neal, James T.; Roth, Frederick P.; Rubin, Alan F.; Starita, Lea M.; Hurles, Matthew E.; Ahituv, Nadav; Bahcal, Orli G.; Baldridge, Dustin; Berg, Jonathan S.; Berger, Alice H.; Bianchi, Aisha Haley; Bolognesi, Benedetta; Boutros, Michael; Brenner, Steven; Brush, Matthew H.; Bryant, Vanessa; Bult, Carol J.; Bulyk, Martha; Call, Melissa; Carter, Hannah; Claussnitzer, Melina; Chen, Feng; Cline, Melissa S.; Cuperus, Josh T.; Dawood, Moez; De Jong, Hannah N.; Dias, Mafalda; Dunn, Michael; Engreitz, Jesse; Farh, Kyle; Febbo, Phillip G.; Fields, Stanley; Findlay, Gregory M.; Firth, Helen; Fraser, James S.; Frazer, Jonathan; Frontini, Mattia; Romero, Irene Gallego; Glazer, Andrew M.; Gueler, Murat; Hartmann-Petersen, Rasmus; Houlston, Richard; Huang, Kuan-Lin; Hutter, Carolyn M.; Jagannathan, Sujatha; James, Richard G.; Kampmann, Martin; Karchin, Rachel; Kinney, Justin B.; Komor, Alexis C.; Kosuri, Sriram; Lehner, Ben; Lindorff-Larsen, Kresten; Lombard, Zane; MacArthur, Daniel G.; Martin, Maria; McDermott, Ultan; McNulty, Shannon M.; Ba, Alex N. Nguyen; O'Donnell-Luria, Anne; O'Roak, Brian J.; Parikh, Victoria N.; Parts, Leopold; Pazin, Michael J.; Pesaran, Tina; Petrovski, Slave; Queitsch, Christine; Root, David E.; Shendure, Jay; Spurdle, Amanda B.; Taylor, Kevin L.; Turnbull, Clare; Villen, Judit; Vissers, L. E. L. M.; Wagner, Alex H.; Wakefield, Matthew J.; Weile, Jochen; Xiao, Jenny 分享 收藏
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TPS3, and PTEN 缩小差距: 多重功能数据的系统整合解决了BRCA1，TPS3和PTEN中不确定意义的变体 Fayer, Shawn; Horton, Carrie; Dines, Jennifer N.; Rubin, Alan F.; Richardson, Marcy E.; McGoldrick, Kelly; Hernandez, Felicia; Pesaran, Tina; Karam, Rachid; Shirts, Brian H.; Fowler, Douglas M.; Starita, Lea M. 分享 收藏
GA4GH: International policies and standards for data sharing across genomic research and healthcare GA4GH: 跨基因组研究和医疗保健的数据共享的国际政策和标准 Rehm, Heidi L.; Page, Angela J. H.; Smith, Lindsay; Adams, Jeremy B.; Alterovitz, Gil; Babb, Lawrence J.; Barkley, Maxmillian P.; Baudis, Michael; Beauvais, Michael J. S.; Beck, Tim; Beckmann, Jacques S.; Beltran, Sergi; Bernick, David; Bernier, Alexander; Bonfield, James K.; Boughtwood, Tiffany F.; Bourque, Guillaume; Bowers, Sarion R.; Brookes, Anthony J.; Brudno, Michael; Brush, Matthew H.; Bujold, David; Burdett, Tony; Buske, Orion J.; Cabili, Moran N.; Cameron, Daniel L.; Carroll, Robert J.; Casas-Silva, Esmeralda; Chakravarty, Debyani; Chaudhari, Bimal P.; Chen, Shu Hui; Cherry, J. Michael; Chung, Justina; Cline, Melissa; Clissold, Hayley L.; Cook-Deegan, Robert M.; Courtot, Melanie; Cunningham, Fiona; Cupak, Miro; Davies, Robert M.; Denisko, Danielle; Doerr, Megan J.; Dolman, Lena I.; Dove, Edward S.; Dursi, L. Jonathan; Dyke, Stephanie O. M.; Eddy, James A.; Eilbeck, Karen; Ellrott, Kyle P.; Fairley, Susan; Fakhro, Khalid A.; Firth, Helen V.; Fitzsimons, Michael S.; Fiume, Marc; Flicek, Paul; Fore, Ian M.; Freeberg, Mallory A.; Freimuth, Robert R.; Fromont, Lauren A.; Fuerth, Jonathan; Gaff, Clara L.; Gan, Weiniu; Ghanaim, Elena M.; Glazer, David; Green, Robert C.; Griffith, Malachi; Griffith, Obi L.; Grossman, Robert L.; Groza, Tudor; Auvil, Jaime M. Guidry; Guigo, Roderic; Gupta, Dipayan; Haendel, Melissa A.; Hamosh, Ada; Hansen, David P.; Hart, Reece K.; Hartley, Dean Mitchell; Haussler, David; Hendricks-Sturrup, Rachele M.; Ho, Calvin W. L.; Hobb, Ashley E.; Hoffman, Michael M.; Hofmann, Oliver M.; Holub, Petr; Hsu, Jacob Shujui; Hubaux, Jean-Pierre; Hunt, Sarah E.; Husami, Ammar; Jacobsen, Julius O.; Jamuar, Saumya S.; Janes, Elizabeth L.; Jeanson, Francis; Jene, Aina; Johns, Amber L.; Joly, Yann; Jones, Steven J. M.; Kanitz, Alexander; Kato, Kazuto; Keane, Thomas M.; Kekesi-Lafrance, Kristina; Kelleher, Jerome; Kerry, Giselle; Khor, Seik-Soon; Knoppers, Bartha M.; Konopko, Melissa A.; Kosaki, Kenjiro; Kuba, Martin; Lawson, Jonathan; Leinonen, Rasko; Li, Stephanie; Lin, Michael F.; Linden, Mikael; Liu, Xianglin; Liyanage, Isuru Udara; Lopez, Javier; Lucassen, Anneke M.; Lukowski, Michael; Mann, Alice L.; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J.; Molnar-Gabor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C.; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H.; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyronen, Tommi H.; O'Connor, Brian D.; Oesterle, Sabine; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura A. D.; Palumbo, Emilio; Parkinson, Helen E.; Philippakis, Anthony A.; Pizarro, Angel D.; Prlic, Andreas; Rambla, Jordi; Rendon, Augusto; Rider, Renee A.; Robinson, Peter N.; Rodarmer, Kurt W.; Rodriguez, Laura Lyman; Rubin, Alan F.; Rueda, Manuel; Rushton, Gregory A.; Ryan, Rosalyn S.; Saunders, Gary I.; Schuilenburg, Helen; Schwede, Torsten; Scollen, Serena; Senf, Alexander; Sheffield, Nathan C.; Skantharajah, Neerjah; Smith, Albert V.; Sofia, Heidi J.; Spalding, Dylan; Spurdle, Amanda B.; Stark, Zornitza; Stein, Lincoln D.; Suematsu, Makoto; Tan, Patrick; Tedds, Jonathan A.; Thomson, Alastair A.; Thorogood, Adrian; Tickle, Timothy L.; Tokunaga, Katsushi; Tomroos, Juha; Torrents, David; Upchurch, Sean; Valencia, Alfonso; Guimera, Roman Valls; Vamathevan, Jessica; Varma, Susheel; Vears, Danya F.; Viner, Coby; Voisin, Craig; Wagner, Alex H.; Wallace, Susan E.; Walsh, Brian P.; Williams, Marc S.; Winkler, Eva C.; Wold, Barbara J.; Wood, Grant M.; Woolley, J. Patrick; Yamasaki, Chisato; Yates, Andrew D.; Yung, Christina K.; Zass, Lyndon J.; Zaytseva, Ksenia; Zhang, Junjun; Goodhand, Peter; North, Kathryn; Birney, Ewan 分享 收藏
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Collateral fitness effects of mutations Mehlhoff, Jacob D.; Stearns, Frank W.; Rohm, Dahlia; Wang, Buheng; Tsou, Erh-Yeh; Dutta, Nisita; Hsiao, Meng-Hsuan; Gonzalez, Courtney E.; Rubin, Alan F.; Ostermeier, Marc 分享 收藏
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation Gelman, Hannah; Dines, Jennifer N.; Berg, Jonathan; Berger, Alice H.; Brnich, Sarah; Hisama, Fuki M.; James, Richard G.; Rubin, Alan F.; Shendure, Jay; Shirts, Brian; Fowler, Douglas M.; Starita, Lea M. 分享 收藏
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