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

Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2-Related Long-QT Syndrome

校准后的功能数据可降低KCNH2相关长QT间期综合征的临床诊断不确定性

Ng, Chai-Ann; O'Neill, Matthew J; Padigepati, Samskruthi R; Ting, Yi-Lee; Facio, Flavia M; Vatta, Matteo; Poll, Sarah R; Reuter, Jason A; Vandenberg, Jamie I; Kroncke, Brett M

Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference

利用大型语言模型和贝叶斯推断,结合基因型和表型数据进行群体规模的变异分类

Manders, Toby R; Tan, Christopher A; Kobayashi, Yuya; Wahl, Alexander; Araya, Carlos; Colavin, Alexandre; Facio, Flavia M; Metz, Hillery; Reuter, Jason; Frésard, Laure; Padigepati, Samskruthi R; Stafford, David A; Nussbaum, Robert L; Nykamp, Keith

Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome

校准后的功能数据降低了KCNH2相关长QT间期综合征的临床不确定性

Ng, Chai-Ann; O'Neill, Matthew J; Padigepati, Samskruthi R; Ting, Yi-Lee; Facio, Flavia M; Vatta, Matteo; Poll, Sarah R; Reuter, Jason; Vandenberg, Jamie I; Kroncke, Brett M

Predicting the clinical impact of human mutation with deep neural networks

利用深度神经网络预测人类突变的临床影响

Sundaram, Laksshman; Gao, Hong; Padigepati, Samskruthi Reddy; McRae, Jeremy F; Li, Yanjun; Kosmicki, Jack A; Fritzilas, Nondas; Hakenberg, Jörg; Dutta, Anindita; Shon, John; Xu, Jinbo; Batzoglou, Serafim; Li, Xiaolin; Farh, Kyle Kai-How