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

An integrated, scaled approach to resolve TSC2 variants of uncertain significance

采用综合、规模化的方法来解决意义不明的TSC2变异。

Biar, Carina G; Wang, Ziyu R; Camp, Nathan D; Holmes, Daniel L; Wheelock, Melinda K; Pendyala, Sriram; McGee, Abby V; Gupta, Pankhuri; McEwen, Abbye E; Tejura, Malvika; Richardson, Marcy E; Weyandt, Jamie D; Coleman, Taylor; Stewart, Ross; Zeiberg, Daniel; Vandi, Allyssa J; Dawson, Samantha; Radivojac, Predrag; Starita, Lea M; Carvill, Gemma L; James, Richard G; Fowler, Douglas M; Calhoun, Jeffrey D

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

Sceptic: pseudotime analysis for time-series single-cell sequencing and imaging data

怀疑论者:时间序列单细胞测序和成像数据的伪时间分析

Li, Gang; Kim, Hyeon-Jin; Pendyala, Sriram; Zhang, Ran; Vert, Jean-Philippe; Disteche, Christine M; Deng, Xinxian; Fowler, Douglas M; Noble, William Stafford

Image-based identification and isolation of micronucleated cells to dissect cellular consequences.

基于图像的微核细胞识别与分离,以剖析细胞后果

DiPeso Lucian, Pendyala Sriram, Huang Heather Z, Fowler Douglas M, Hatch Emily M

STARCall integrates image stitching, alignment, and read calling to enable scalable analysis of in situ sequencing data

STARCall集成了图像拼接、比对和读取调用功能,从而能够对原位测序数据进行可扩展的分析。

Bradley, Nicholas J; Pendyala, Sriram; Partington, Katie; Fowler, Douglas M

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

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

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

Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes

人类心肌细胞中MYH7变异体的多重功能评估

Friedman, Clayton E; Fayer, Shawn; Pendyala, Sriram; Chien, Wei-Ming; Loiben, Alexander; Tran, Linda; Chao, Leslie S; McKinstry, Ashley; Ahmed, Dania; Farris, Stephen D; Stempien-Otero, April; Jonlin, Erica C; Murry, Charles E; Starita, Lea M; Fowler, Douglas M; Yang, Kai-Chun