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

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

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

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

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

对罕见基因组计划中用于罕见病诊断的变异优先排序方法进行批判性评估

Stenton, Sarah L; O'Leary, Melanie C; Lemire, Gabrielle; VanNoy, Grace E; DiTroia, Stephanie; Ganesh, Vijay S; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O B; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E; Fullerton, Stephanie M; Radivojac, Predrag; Rehm, Heidi L; O'Donnell-Luria, Anne

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; Jiménez Barrón, Laura T; 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

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

对罕见基因组计划中用于罕见病诊断的变异优先排序方法进行批判性评估

Stenton, Sarah L; O'Leary, Melanie; Lemire, Gabrielle; VanNoy, Grace E; DiTroia, Stephanie; Ganesh, Vijay S; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O B; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E; Fullerton, Stephanie M; Radivojac, Predrag; Rehm, Heidi L; O'Donnell-Luria, Anne