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

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

家族性高胆固醇血症基因 LDLR 编码变异的功能图谱。

Tabet Daniel R, Coté Atina G, Lancaster Megan C, Weile Jochen, Rayhan Ashyad, Fotiadou Iosifina, Kishore Nishka, Li Roujia, Kuang Da, Knapp Jennifer J, Carrero Carmela S, Taverniti Olivia, Axakova Anna, Castelli Jack M P, Islam Mohammad M, Sowlati-Hashjin Shahin, Gandhi Aanshi, Maaieh Ranim, Garton Michael, Matreyek Kenneth, Fowler Douglas M, Bourbon Mafalda, Pfisterer Simon G, Glazer Andrew M, Kroncke Brett M, Parikh Victoria N, Ashley Euan A, Knowles Joshua W, Claussnitzer Melina, Cirulli Elizabeth T, Hegele Robert A, Roden Dan M, MacRae Calum A, Roth Frederick P

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

建立变异效应图谱,以解决意义未明的变异,并指导心血管医学研究。

Glazer, Andrew M; Tabet, Daniel R; Parikh, Victoria N; Kroncke, Brett M; Cote, Atina G; Yamamoto, Yuta; Wang, Qianru; Muhammad, Ayesha; Lancaster, Megan C; O'Neill, Matthew J; Weile, Jochen; Yang, Tao; Macrae, Calum A; Ashley, Euan A; Roth, Frederick P; Roden, Dan 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

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

Landscapes of missense variant impact for human superoxide dismutase 1

人类超氧化物歧化酶1错义变异影响图谱

Axakova, Anna; Ding, Megan; Cote, Atina G; Subramaniam, Radha; Senguttuvan, Vignesh; Zhang, Haotian; Weile, Jochen; Douville, Samuel V; Gebbia, Marinella; Al-Chalabi, Ammar; Wahl, Alexander; Reuter, Jason; Hurt, Jessica; Mitchell, Adele A; Fradette, Stephanie; Andersen, Peter M; van Loggerenberg, Warren; Roth, Frederick P

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants

利用癌症突变数据来指导种系错义变异的致病性分类

Haque, Bushra; Cheerie, David; Pan, Amy; Curtis, Meredith; Nalpathamkalam, Thomas; Nguyen, Jimmy; Salhab, Celine; Thiruvahindrapuram, Bhooma; Zhang, Jade; Couse, Madeline; Hartley, Taila; Morrow, Michelle M; Price, E Magda; Walker, Susan; Malkin, David; Roth, Frederick P; Costain, Gregory

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

Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy

通过对变异效应进行多维分析,可以识别肥厚型心肌病中的序列-功能关系。

Yamamoto, Yuta; Chua, Kaiser; Ferrasse, Alexis; Kirilova, Anna; De Jong, Hannah N; Floyd, Brendan J; Cadisch, Christian; Wiel, Laurens; Wang, Qianru; O'Neill, Matthew J; Tabet, Daniel; Staudt, David; Goryznski, John E; Huang, Yong; Wilson, Rachel H; Sharma, Arman; Tapales, Althea; Agrawal, Rani; Wheeler, Matthew T; MacRae, Calum; Roden, Dan M; Roth, Frederick P; Glazer, Andrew M; Ashley, Euan A; Parikh, Victoria N

A global genetic interaction map of a human cell reveals conserved principles of genetic networks

人类细胞的全局基因相互作用图谱揭示了基因网络的保守原则

Billmann, Maximilian; Costanzo, Michael; Zhang, Xiang; Hassan, Arshia Z; Rahman, Mahfuzur; Brown, Kevin R; Chan, Katherine S; Tong, Amy Hin Yan; Pons, Carles; Ward, Henry N; Ross, Catherine; van Leeuwen, Jolanda; Aregger, Michael; Lawson, Keith A; Mair, Barbara; Roth, Amy F; Sen, Nesli E; Forster, Duncan; Tan, Guihong; Mero, Patricia; Masud, Sanna N; Lee, Yoonkyu; Aguilera-Uribe, Magali; Usaj, Matej; Almeida, Sylvia M T; Aulakh, Kamaldeep; Bhojoo, Urvi; Birkadze, Saba; Budijono, Nathaniel; Cai, Xunhui; Caumanns, Joseph J; Chandrashekhar, Megha; Chang, Daniel; Climie, Ryan; Dasgupta, Kuheli; Drazic, Adrian; Rojas Echenique, Jose I; Gacesa, Rafael; Granda Farias, Adrian; Habsid, Andrea; Horecka, Ira; Kantautas, Kristin; Ji, Fenghu; Kim, Dae-Kyum; Lee, Seon Yong; Liang, Wendy; Lim, Julianne; Lin, Kevin; Lu, Xueibing; Nami, Babak; Nixon, Allison; Mikolajewicz, Nicholas; Nedyalkova, Lyudmila; Rohde, Thomas; Sartori Rodrigues, Maria; Soste, Martin; Schultz, Eric; Wang, Wen; Seetharaman, Ashwin; Shuteriqi, Emira; Sizova, Olga; Thomson Taylor, David; Tereshchenko, Maria; Tieu, David; Turowec, Jacob; Ubhi, Tajinder; Varland, Sylvia; Wang, Kyle E; Wang, Zi Yang; Wei, Jiarun; Xiao, Yu-Xi; Brown, Grant W; Cravatt, Benjamin F; Dixon, Scott J; Wyatt, Haley D M; Röst, Hannes L; Roth, Frederick P; Xia, Tian; Bader, Gary D; Loewith, Robbie; Davis, Nicholas G; Andrews, Brenda; Myers, Chad L; Moffat, Jason; Boone, Charles

Comprehensively Testing the Function of Missense Variation in the STK11 Tumour Suppressor

全面检验STK11肿瘤抑制基因错义变异的功能

Zimmerman, Daniel; Cote, Atina; van Loggerenberg, Warren; Gebbia, Marinella; Kishore, Nishka; Weile, Jochen; Li, Roujia; Reno, Chloe; Marsh, Ashley Pl; Hernandez, Felicia; Shahagadkar, Preksha; Grove, Lauren; Meier, Samuel R; Wu, Hsin-Jung; Fenoglio, Silvia; Ahronian, Leanne; Teng, Teng; Waters, Andrew J; Seward, David; Taipale, Mikko; Aronson, Melyssa; Richardson, Marcy E; Adams, David J; Roth, Frederick P