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

Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework

通过将异构基因组数据整合到贝叶斯框架中来准确识别与脑部疾病相关的基因

Dan He, Ling Li, Huasong Zhang, Feiyi Liu, Shaoying Li, Xuehao Xiu, Cong Fan, Mengling Qi, Meng Meng, Junping Ye, Matthew Mort, Peter D Stenson, David N Cooper, Huiying Zhao

PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis

PIGA 突变和糖基磷脂酰肌醇锚定失调与息肉病相关的十二指肠肿瘤发生

Elena Meuser, Kyle Chang, Angharad Walters, Joanna J Hurley, Hannah D West, Iain Perry, Matthew Mort, Laura Reyes-Uribe, Rebekah Truscott, Nicholas Jones, Rachel Lawrence, Gareth Jenkins, Peter Giles, Sunil Dolwani, Bilal Al-Sarireh, Neil Hawkes, Emma Short, Geraint T Williams, Melissa W Taggart, Ki

Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin

氧化 DNA 碱基修复的遗传模式与修复复合物预先定位开放染色质相一致

Albino Bacolla, Shiladitya Sengupta, Zu Ye, Chunying Yang, Joy Mitra, Ruth B De-Paula, Muralidhar L Hegde, Zamal Ahmed, Matthew Mort, David N Cooper, Sankar Mitra, John A Tainer

Gene expression across mammalian organ development

哺乳动物器官发育过程中的基因表达

Margarida Cardoso-Moreira, Jean Halbert, Delphine Valloton, Britta Velten, Chunyan Chen, Yi Shao, Angélica Liechti, Kelly Ascenção, Coralie Rummel, Svetlana Ovchinnikova, Pavel V Mazin, Ioannis Xenarios, Keith Harshman, Matthew Mort, David N Cooper, Carmen Sandi, Michael J Soares, Paula G Ferreira, 

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

人类群体中等位基因频率谱中的遗传变异会严重破坏蛋白质相互作用

Robert Fragoza, Jishnu Das, Shayne D Wierbowski, Jin Liang, Tina N Tran, Siqi Liang, Juan F Beltran, Christen A Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D Stenson, David N Cooper, Xiaomu Wei, Alon Keinan, John C Schimenti, Andrew G Clark, Haiyuan Yu

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

MutPred Splice:基于机器学习的破坏剪接的外显子变异预测

Matthew Mort, Timothy Sterne-Weiler, Biao Li, Edward V Ball, David N Cooper, Predrag Radivojac, Jeremy R Sanford, Sean D Mooney

Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks

利用大规模原子分辨率蛋白质网络阐明人类致病变异的共同结构特征

Jishnu Das, Hao Ran Lee, Adithya Sagar, Robert Fragoza, Jin Liang, Xiaomu Wei, Xiujuan Wang, Matthew Mort, Peter D Stenson, David N Cooper, Haiyuan Yu

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations

用于克隆 DNA 变体和检查人类疾病突变分子表型的大规模并行流程

Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D Stenson, David N Cooper, Steven M Lipkin, Marcus B Smolka, Haiyuan Yu