日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ClinGen API platform for classification of human genetic variants

ClinGen API平台用于人类遗传变异分类

Shah, Neethu; Farris, Tierra; Zuniga, Arturo Alejandro; Jackson, Andrew R; Arce, Jessie; Riehle, Kevin; Preston, Christine G; Mandell, Mark E; Wulf, Bryan; Cheung, Gloria; Yu, Keyang; Ritter, Deborah I; Jevtic, Dubravka; Milinkov, Miroslav; Martinovic, Novak; Vucinic, Nevena; Mihajlovic, Aleksandar; Rubin, Alan F; Cline, Melissa S; Distefano, Marina; Griffith, Malachi; Griffith, Obi L; Wright, Matt W; Klein, Teri E; Plon, Sharon E; Milosavljevic, Aleksandar

A scalable approach to resolving variants of uncertain significance

一种解决意义不确定变异的可扩展方法

Tejura, Malvika; Chen, Yile; McEwen, Abbye E; Stewart, Ross; Sverchkov, Yuriy; Laval, Florent; Woo, Ivan; Zeiberg, Daniel; Shen, Runxi; Fayer, Shawn; Stone, Jeremy; Smith, Nahum; Casadei, Silvia; Wang, Ziyu R; Snyder, Matthew W; Capodanno, Benjamin J; Gupta, Pankhuri; Benazouz, Mariam; Jain, Shantanu; Heidl, Sarah; Muffley, Lara; Dong, Shengcheng; Hitz, Benjamin C; Gabdank, Idan; Lin, Khine; Da, Estelle Y; Best, Sabrina; Grindstaff, Sally; Reinhart, David; Rodriguez-Salas, Leslie; Seid, Obsa; Vandi, Allyssa J; Wenman, Cameron; Wheelock, Melinda K; Pendyala, Sriram; Holmes, Dan; Xu, Alicia; Hosokai, Airi; Tixhon, Maxime; Reno, Chloe; Ewald, Jessica D; Spirohn-Fitzgerald, Kerstin; Teelucksingh, Tanisha; Hao, Tong; Chen, Zitong S; Haghighi, Marzieh; Hamid, Ahmad Kamal; Miglietta, Esteban A; Weisbart, Erin; Coppin, Georges; Lambourne, Luke; Gebbia, Marinella; Coté, Atina G; van Loggerenberg, Warren; Fawcett, Kirby M; Steiner, Robert D; Johnsen, Jill M; Stergachis, Andrew B; Iakoucheva, Lilia M; Singh, Shantanu; Cimini, Beth A; Roth, Frederick P; James, Richard G; Vidal, Marc; Taipale, Mikko; Carpenter, Anne E; Calderwood, Michael A; Craven, Mark; Pejaver, Vikas; Rubin, Alan F; Radivojac, Predrag; Fowler, Douglas M; Starita, Lea M

Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP

利用 MultiSTEP 技术对分泌蛋白中的变异效应进行多重和多模态映射

Popp, Nicholas A; Powell, Rachel L; Wheelock, Melinda K; Holmes, Kristen J; Zapp, Brendan D; Sheldon, Kathryn M; Fletcher, Shelley N; Wu, Xiaoping; Fayer, Shawn; Rubin, Alan F; Lannert, Kerry W; Chang, Alexis T; Sheehan, John P; Johnsen, Jill M; Fowler, Douglas M

Mapping MAVE data for use in human genomics applications

将MAVE数据映射到人类基因组学应用中

Arbesfeld, Jeremy A; Da, Estelle Y; Stevenson, James S; Kuzma, Kori; Paul, Anika; Farris, Tierra; Capodanno, Benjamin J; Grindstaff, Sally B; Riehle, Kevin; Saraiva-Agostinho, Nuno; Safer, Jordan F; Casper, Jonathan; Haeussler, Maximilian; Milosavljevic, Aleksandar; Foreman, Julia; Firth, Helen V; Hunt, Sarah E; Iqbal, Sumaiya; Cline, Melissa S; Rubin, Alan F; Wagner, Alex H

MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays

MaveDB 2024:一个经过精心整理的社区数据库,包含来自多重功能分析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; Ye, Shenyi Sunny; Starita, Lea M; Bryant, Vanessa L; Marks, Debora S; Fowler, Douglas M

Guidelines for releasing a variant effect predictor

发布变异效应预测器的指南

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; Marsh, Joseph A

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation

深入探讨如何提高功能数据的可访问性和可用性,从而释放其在变异解读方面的潜力

Park, Min Seon; Kumar, Runjun D; Ovadiuc, Cristian; Folta, Andrew; McEwen, Abbye E; Snyder, Ashley; Villani, Rehan M; Spurdle, Amanda B; Fowler, Douglas M; Rubin, Alan F; Shirts, Brian H; Starita, Lea M; Stergachis, Andrew B

Consultation informs strategies for improving the use of functional evidence in variant classification

咨询为改进变异分类中功能证据的使用策略提供了信息。

Villani, Rehan M; Terrill, Bronwyn; Tudini, Emma; McKenzie, Maddison E; Cliffe, Corrina C; Hahn, Christopher N; Lundie, Ben; Mattiske, Tessa; Matotek, Ebony; McEwen, Abbye E; Nickerson, Sarah L; Breen, James; Fowler, Douglas M; Christodoulou, John; Starita, Lea; Rubin, Alan F; Spurdle, Amanda B

Variant scoring tools for deep mutational scanning

用于深度突变扫描的变异评分工具

Çubuk, Hasan; Jin, Xinyi; Phipson, Belinda; Marsh, Joseph A; Rubin, Alan F

VEFill: a model for accurate and generalizable deep mutational scanning score imputation across protein domains

VEFill:一种用于跨蛋白质结构域进行准确且可推广的深度突变扫描评分插补的模型

Polunina, Polina V; Maier, Wolfgang; Rubin, Alan F