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

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

Gene-based calibration of high-throughput functional assays for clinical variant classification

基于基因的高通量功能检测校准用于临床变异分类

Zeiberg, Daniel; Tejura, Malvika; McEwen, Abbye E; Fayer, Shawn; Pejaver, Vikas; Rubin, Alan F; Starita, Lea M; Fowler, Douglas M; O'Donnell-Luria, Anne; Radivojac, Predrag

Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts

大规模编辑干细胞基因组,以测量不同细胞和遗传背景下的变异效应

Fayer, Shawn; Garge, Riddhiman K; Hopkins, Melissa; Friedman, Clayton E; McGee, Abby V; Rico, Joshua; Powell, Rachel L; McDermot, Evan; Smith, Nahum T; Pendyala, Sriram; Richardson, Marcy E; Smith, Erica D; Bowen, B Monica; Resnick, Rebecca; Gupta, Pankhuri; Stergachis, Andrew B; Gifford, Casey; Pinglay, Sudarshan; Yang, Kai-Chun; Fowler, Douglas M; Starita, Lea M

Multiplex, multimodal mapping of variant effects in secreted proteins

分泌蛋白变异效应的多重、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

Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression

BARD1基因的饱和基因组编辑解析了VUS,并为BRCA1-BARD1肿瘤抑制机制提供了新的见解。

Woo, Ivan; Casadei, Silvia; Snyder, Matthew W; Smith, Nahum T; Best, Sabrina; Tejura, Malvika; Gupta, Pankhuri; McEwen, Abbye E; Post, Mason; Hamm, Audrey; Dawood, Moez; Hosokai, Airi; Xu, Alicia; Garge, Riddhiman K; Fayer, Shawn; Brannan, Terra; Richardson, Marcy E; Pendyala, Sriram; Heidl, Sarah; Muffley, Lara; Fowler, Douglas M; Starita, Lea M

Functional evidence for G6PD variant classification from mutational scanning.

通过突变扫描获得G6PD变异分类的功能证据

Geck Renee C, Wheelock Melinda K, Powell Rachel L, Wang Ziyu R, Holmes Daniel L, Fayer Shawn, Boyle Gabriel E, Vandi Allyssa J, McGee Abby V, Amorosi Clara J, Moore Nick, Rubin Alan F, Fowler Douglas M, Dunham Maitreya J

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

基于图像的汇总表型分析揭示了多维度的、疾病特异性的变异效应

Pendyala Sriram, Partington Katie, Bradley Nicholas, McEwen Abbye E, Straub Gwenneth, Kim Hyeon-Jin, Fayer Shawn, Holmes Daniel Lee, Sitko Katherine A, Vandi Allyssa J, Powell Rachel L, Friedman Clayton E, McDermot Evan, Kishore Nishka, Roth Frederick P, Rubin Alan F, Yang Kai-Chun, Starita Lea M, Noble William S, Fowler Douglas M

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

利用多重功能数据减少代表性不足人群中变异分类的不公平现象

Dawood, Moez; Fayer, Shawn; Pendyala, Sriram; Post, Mason; Kalra, Divya; Patterson, Karynne; Venner, Eric; Muffley, Lara A; Fowler, Douglas M; Rubin, Alan F; Posey, Jennifer E; Plon, Sharon E; Lupski, James R; Gibbs, Richard A; Starita, Lea M; Robles-Espinoza, Carla Daniela; Coyote-Maestas, Willow; Gallego Romero, Irene

Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes

利用全基因组数据校准变异效应预测因子会掩盖基因间性能的异质性。

Tejura, Malvika; Fayer, Shawn; McEwen, Abbye E; Flynn, Jake; Starita, Lea M; Fowler, Douglas M