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

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

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

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

Minimum information and guidelines for reporting a multiplexed assay of variant effect

多重变异效应检测报告的最低信息和指南

Claussnitzer, Melina; Parikh, Victoria N; Wagner, Alex H; Arbesfeld, Jeremy A; Bult, Carol J; Firth, Helen V; Muffley, Lara A; Nguyen Ba, Alex N; Riehle, Kevin; Roth, Frederick P; Tabet, Daniel; Bolognesi, Benedetta; Glazer, Andrew M; Rubin, Alan F

Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023

研讨会报告:多重变异效应检测(MAVE)数据的临床应用,2023年7月12日

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

Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study

建立成人烧伤幸存者协作基因组库:烧伤模型系统可行性研究

Sibbett, Stephen; Oh, Jamie; Carrougher, Gretchen; Muffley, Lara; Ashford, Nathaniel; Pacleb, Maiya; Mandell, Samuel; Schneider, Jeffrey; Wolf, Steven; Stewart, Barclay; Gibran, Nicole S

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

An Atlas of Variant Effects to understand the genome at nucleotide resolution

构建变异效应图谱,以核苷酸分辨率理解基因组

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

Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect

多重变异效应检测报告的最低信息和指南

Claussnitzer, Melina; Parikh, Victoria N; Wagner, Alex H; Arbesfeld, Jeremy A; Bult, Carol J; Firth, Helen V; Muffley, Lara A; Nguyen Ba, Alex N; Riehle, Kevin; Roth, Frederick P; Tabet, Daniel; Bolognesi, Benedetta; Glazer, Andrew M; Rubin, Alan F