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

The IGVF catalog-from genetic variation to function

IGVF目录——从基因变异到功能

Li, Daofeng; Liu, Shane; Assis, Pedro R; Li, Mingjie; Dong, Shengcheng; Whaling, Ian; Jolanki, Otto; Kagda, Meenakshi; Zhang, Wenjin; Macias-Velasco, Juan F; Liu, Tianjie; Cody, Sarah; Antonacci-Fulton, Lucinda; Huang, Yuanhao; Liu, Jie; Montgomery, Michael T; Zeiberg, Daniel; Jain, Shantanu; Pejaver, Vikas; Bergquist, Timothy; Chen, Yile; Radivojac, Predrag; Gersbach, Charles A; Sherpa, Rintsen N; Castro, Christopher P; Boyle, Alan P; Starita, Lea M; Fowler, Douglas M; Ahituv, Nadav; Dey, Kushal K; Majoros, William H; Reddy, Timothy E; Craven, Mark; Sinha, Riya; Sverchkov, Yuriy; Cai, Xiangmeng; Nzima, Mpathi Z; Calderwood, Michael A; Rozowsky, Joel; Gerstein, Mark; Ma, Jian; Yue, Feng; Cherry, J Michael; Love, Michael I; Engreitz, Jesse M; Hitz, Benjamin C; Wang, Ting

Ancestry-specific performance of variant effect predictors in clinical variant classification

临床变异分类中变异效应预测器的祖源特异性性能

Hoffing, Rachel; Zeiberg, Daniel; Stenton, Sarah L; Mort, Matthew; Cooper, David N; Hahn, Matthew W; O'Donnell-Luria, Anne; Ward, Lucas D; Radivojac, Predrag

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

Literature-driven extraction and computational prediction of causal statements linking genetic variants to biological processes, pathways and phenotypes

基于文献的因果关系提取和计算预测:将遗传变异与生物过程、通路和表型联系起来

Jiang, Jici; Radivojac, Predrag; Gyori, Benjamin M

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

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers

评估在原发性人类非小细胞肺癌中发现的STK11变体的激酶活性预测因子

Chen, Yile; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Casadio, Rita; Martelli, Pier Luigi; Savojardo, Castrense; Manfredi, Matteo; Shen, Yang; Sun, Yuanfei; Katsonis, Panagiotis; Lichtarge, Olivier; Pejaver, Vikas; Seward, David J; Kamandula, Akash; Bakolitsa, Constantina; Brenner, Steven E; Radivojac, Predrag; O'Donnell-Luria, Anne; Mooney, Sean D; Jain, Shantanu

Critical assessment of missense variant effect predictors on disease-relevant variant data

对错义变异效应预测因子在疾病相关变异数据上的关键评估

Rastogi, Ruchir; Chung, Ryan; Li, Sindy; Li, Chang; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Chennen, Kirsley; Weber, Thomas; Poch, Olivier; Ancien, François; Cia, Gabriel; Pucci, Fabrizio; Raimondi, Daniele; Vranken, Wim; Rooman, Marianne; Marquet, Céline; Olenyi, Tobias; Rost, Burkhard; Andreoletti, Gaia; Kamandula, Akash; Peng, Yisu; Bakolitsa, Constantina; Mort, Matthew; Cooper, David N; Bergquist, Timothy; Pejaver, Vikas; Liu, Xiaoming; Radivojac, Predrag; Brenner, Steven E; Ioannidis, Nilah M

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

对芳基硫酸酯酶A中意义不明的变体的酶活性预测进行评估

Jain, Shantanu; Trinidad, Marena; Nguyen, Thanh Binh; Jones, Kaiya; Neto, Santiago Diaz; Ge, Fang; Glagovsky, Ailin; Jones, Cameron; Moran, Giankaleb; Wang, Boqi; Rahimi, Kobra; Çalıcı, Sümeyra Zeynep; Cedillo, Luis R; Berardelli, Silvia; Özden, Buse; Chen, Ken; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Rana, Sadhna; Pradhan, Swatantra; Srinivasan, Rajgopal; Sajeed, Rakshanda; Joshi, Dinesh; Faraggi, Eshel; Jernigan, Robert; Kloczkowski, Andrzej; Xu, Jierui; Song, Zigang; Özkan, Selen; Padilla, Natàlia; de la Cruz, Xavier; Acuna-Hidalgo, Rocio; Grafmüller, Andrea; Barrón, Laura T Jiménez; Manfredi, Matteo; Savojardo, Castrense; Babbi, Giulia; Martelli, Pier Luigi; Casadio, Rita; Sun, Yuanfei; Zhu, Shaowen; Shen, Yang; Pucci, Fabrizio; Rooman, Marianne; Cia, Gabriel; Raimondi, Daniele; Hermans, Pauline; Kwee, Sofia; Chen, Ella; Astore, Courtney; Kamandula, Akash; Pejaver, Vikas; Ramola, Rashika; Velyunskiy, Michelle; Zeiberg, Daniel; Mishra, Reet; Sterling, Teague; Goldstein, Jennifer L; Lugo-Martinez, Jose; Kazi, Sufyan; Li, Sindy; Long, Kinsey; Brenner, Steven E; Bakolitsa, Constantina; Radivojac, Predrag; Suhr, Dean; Suhr, Teryn; Clark, Wyatt T

Predicting the impact of rare variants on RNA splicing in CAGI6

预测罕见变异对CAGI6中RNA剪接的影响

Lord, Jenny; Oquendo, Carolina Jaramillo; Wai, Htoo A; Douglas, Andrew G L; Bunyan, David J; Wang, Yaqiong; Hu, Zhiqiang; Zeng, Zishuo; Danis, Daniel; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Chang, Yuchen; Bagnall, Richard D; Mount, Stephen M; Matthiasardottir, Brynja; Lin, Chiaofeng; Hansen, Thomas van Overeem; Leman, Raphael; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie; Bakolitsa, Constantina; Peng, Yisu; Kamandula, Akash; Radivojac, Predrag; Baralle, Diana

Assessing predictions on fitness effects of missense variants in HMBS in CAGI6

评估CAGI6中HMBS错义变异对适应性影响的预测

Zhang, Jing; Kinch, Lisa; Katsonis, Panagiotis; Lichtarge, Olivier; Jagota, Milind; Song, Yun S; Sun, Yuanfei; Shen, Yang; Kuru, Nurdan; Dereli, Onur; Adebali, Ogun; Alladin, Muttaqi Ahmad; Pal, Debnath; Capriotti, Emidio; Turina, Maria Paola; Savojardo, Castrense; Martelli, Pier Luigi; Babbi, Giulia; Casadio, Rita; Pucci, Fabrizio; Rooman, Marianne; Cia, Gabriel; Tsishyn, Matsvei; Strokach, Alexey; Hu, Zhiqiang; van Loggerenberg, Warren; Roth, Frederick P; Radivojac, Predrag; Brenner, Steven E; Cong, Qian; Grishin, Nick V