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

Evaluating Language Models for Biomedical Fact-Checking: A Benchmark Dataset for Cancer Variant Interpretation Verification

评估用于生物医学事实核查的语言模型:癌症变异解释验证的基准数据集

Reisle, Caralyn; Grisdale, Cameron J; Krysiak, Kilannin; Danos, Arpad M; Khanfar, Mariam; Pleasance, Erin; Saliba, Jason; Hanos, Melika; Patel, Nilan V; Jain, Asmita; McMichael, Joshua F; Venigalla, Ajay C; Griffith, Malachi; Griffith, Obi L; Jones, Steven J M

CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase

CIViCdb 2022:开放获取癌症变异解读知识库的演变

Krysiak, Kilannin; Danos, Arpad M; Saliba, Jason; McMichael, Joshua F; Coffman, Adam C; Kiwala, Susanna; Barnell, Erica K; Sheta, Lana; Grisdale, Cameron J; Kujan, Lynzey; Pema, Shahil; Lever, Jake; Ridd, Sarah; Spies, Nicholas C; Andric, Veronica; Chiorean, Andreea; Rieke, Damian T; Clark, Kaitlin A; Reisle, Caralyn; Venigalla, Ajay C; Evans, Mark; Jani, Payal; Takahashi, Hideaki; Suda, Avila; Horak, Peter; Ritter, Deborah I; Zhou, Xin; Ainscough, Benjamin J; Delong, Sean; Kesserwan, Chimene; Lamping, Mario; Shen, Haolin; Marr, Alex R; Hoang, My H; Singhal, Kartik; Khanfar, Mariam; Li, Brian V; Lin, Wan-Hsin; Terraf, Panieh; Corson, Laura B; Salama, Yasser; Campbell, Katie M; Farncombe, Kirsten M; Ji, Jianling; Zhao, Xiaonan; Xu, Xinjie; Kanagal-Shamanna, Rashmi; King, Ian; Cotto, Kelsy C; Skidmore, Zachary L; Walker, Jason R; Zhang, Jinghui; Milosavljevic, Aleksandar; Patel, Ronak Y; Giles, Rachel H; Kim, Raymond H; Schriml, Lynn M; Mardis, Elaine R; Jones, Steven J M; Raca, Gordana; Rao, Shruti; Madhavan, Subha; Wagner, Alex H; Griffith, Malachi; Griffith, Obi L

A platform for oncogenomic reporting and interpretation

肿瘤基因组学报告和解释平台

Caralyn Reisle, Laura M Williamson, Erin Pleasance, Anna Davies, Brayden Pellegrini, Dustin W Bleile, Karen L Mungall, Eric Chuah, Martin R Jones, Yussanne Ma, Eleanor Lewis, Isaac Beckie, David Pham, Raphael Matiello Pletz, Amir Muhammadzadeh, Brandon M Pierce, Jacky Li, Ross Stevenson, Hansen Wong

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

利用长读长测序技术改进遗传性癌症易感性的结构变异解读

Thibodeau, My Linh; O'Neill, Kieran; Dixon, Katherine; Reisle, Caralyn; Mungall, Karen L; Krzywinski, Martin; Shen, Yaoqing; Lim, Howard J; Cheng, Dean; Tse, Kane; Wong, Tina; Chuah, Eric; Fok, Alexandra; Sun, Sophie; Renouf, Daniel; Schaeffer, David F; Cremin, Carol; Chia, Stephen; Young, Sean; Pandoh, Pawan; Pleasance, Stephen; Pleasance, Erin; Mungall, Andrew J; Moore, Richard; Yip, Stephen; Karsan, Aly; Laskin, Janessa; Marra, Marco A; Schrader, Kasmintan A; Jones, Steven J M

Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis

碱基切除修复缺陷特征表明,生殖系和体细胞MUTYH基因异常与胰腺导管腺癌和乳腺癌的发生有关。

Thibodeau, My Linh; Zhao, Eric Y; Reisle, Caralyn; Ch'ng, Carolyn; Wong, Hui-Li; Shen, Yaoqing; Jones, Martin R; Lim, Howard J; Young, Sean; Cremin, Carol; Pleasance, Erin; Zhang, Wei; Holt, Robert; Eirew, Peter; Karasinska, Joanna; Kalloger, Steve E; Taylor, Greg; Majounie, Elisa; Bonakdar, Melika; Zong, Zusheng; Bleile, Dustin; Chiu, Readman; Birol, Inanc; Gelmon, Karen; Lohrisch, Caroline; Mungall, Karen L; Mungall, Andrew J; Moore, Richard; Ma, Yussanne P; Fok, Alexandra; Yip, Stephen; Karsan, Aly; Huntsman, David; Schaeffer, David F; Laskin, Janessa; Marra, Marco A; Renouf, Daniel J; Jones, Steven J M; Schrader, Kasmintan A

Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma

转移性汗孔癌的全基因组和全转录组基因组分析

Thibodeau, My Linh; Bonakdar, Melika; Zhao, Eric; Mungall, Karen L; Reisle, Caralyn; Zhang, Wei; Bye, Morgan H; Thiessen, Nina; Bleile, Dustin; Mungall, Andrew J; Ma, Yussanne P; Jones, Martin R; Renouf, Daniel J; Lim, Howard J; Yip, Stephen; Ng, Tony; Ho, Cheryl; Laskin, Janessa; Marra, Marco A; Schrader, Kasmintan A; Jones, Steven J M

Temporal Dynamics of Genomic Alterations in a BRCA1 Germline-Mutated Pancreatic Cancer With Low Genomic Instability Burden but Exceptional Response to Fluorouracil, Oxaliplatin, Leucovorin, and Irinotecan

BRCA1种系突变胰腺癌基因组改变的时间动态:该肿瘤基因组不稳定性负荷低,但对氟尿嘧啶、奥沙利铂、亚叶酸钙和伊立替康治疗反应极佳。

Wong, Hui-Li; Zhao, Eric Y; Jones, Martin R; Reisle, Caralyn R; Eirew, Peter; Pleasance, Erin; Grande, Bruno M; Karasinska, Joanna M; Kalloger, Steve E; Lim, Howard J; Shen, Yaoqing; Yip, Stephen; Morin, Ryan D; Laskin, Janessa; Marra, Marco A; Jones, Steven J M; Schrader, Kasmintan A; Schaeffer, David F; Renouf, Daniel J

Corrigendum: Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

更正:对一名携带种系 CHEK2:c.1100delC 突变且同时诊断为转移性浸润性导管癌的女性进行盆腔生殖器型平滑肌肉瘤的基因组分析

Thibodeau, My Linh; Reisle, Caralyn; Zhao, Eric; Martin, Lee Ann; Alwelaie, Yazeed; Mungall, Karen L; Ch'ng, Carolyn; Thomas, Ruth; Ng, Tony; Yip, Stephen; Lim, Howard; Sun, Sophie; Young, Sean S; Karsan, Aly; Zhao, Yongjun; Mungall, Andrew J; Moore, Richard A; Renouf, Daniel; Gelmon, Karen; Ma, Yussanne P; Hayes, Malcolm; Laskin, Janessa; Marra, Marco A; Schrader, Kasmintan A; Jones, Steven J M

Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

对一名携带种系 CHEK2:c.1100delC 突变且同时诊断为转移性浸润性导管癌的女性进行盆腔生殖器型平滑肌肉瘤的基因组分析

Thibodeau, My Linh; Reisle, Caralyn; Zhao, Eric; Martin, Lee Ann; Alwelaie, Yazeed; Mungall, Karen L; Ch'ng, Carolyn; Thomas, Ruth; Ng, Tony; Yip, Stephen; J Lim, Howard; Sun, Sophie; Young, Sean S; Karsan, Aly; Zhao, Yongjun; Mungall, Andrew J; Moore, Richard A; J Renouf, Daniel; Gelmon, Karen; Ma, Yussanne P; Hayes, Malcolm; Laskin, Janessa; Marra, Marco A; Schrader, Kasmintan A; Jones, Steven J M