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

High-performance web services for querying gene and variant annotation

用于查询基因和变异注释的高性能 Web 服务

Xin, Jiwen; Mark, Adam; Afrasiabi, Cyrus; Tsueng, Ginger; Juchler, Moritz; Gopal, Nikhil; Stupp, Gregory S; Putman, Timothy E; Ainscough, Benjamin J; Griffith, Obi L; Torkamani, Ali; Whetzel, Patricia L; Mungall, Christopher J; Mooney, Sean D; Su, Andrew I; Wu, Chunlei

Development and validation of a two-stage machine learning model for personalised type 2 diabetes screening in the All of Us Research Program and UK Biobank

在“我们所有人”研究计划和英国生物银行中,开发并验证了一种用于个性化2型糖尿病筛查的两阶段机器学习模型。

Khattab, Ahmed; Chen, Shang-Fu; Sadaei, Hossein Javedani; Wineinger, Nathan E; Torkamani, Ali

The MI-CLAIM-GEN checklist for generative artificial intelligence in health

MI-CLAIM-GEN 健康领域生成式人工智能检查清单

Miao, Brenda Y; Chen, Irene Y; Williams, Christopher Y K; Davidson, Jaysón; Garcia-Agundez, Augusto; Sun, Shenghuan; Zack, Travis; Saria, Suchi; Arnaout, Rima; Quer, Giorgio; Sadaei, Hossein J; Torkamani, Ali; Beaulieu-Jones, Brett; Yu, Bin; Gianfrancesco, Milena; Butte, Atul J; Norgeot, Beau; Sushil, Madhumita

Multimodal AI correlates of glucose spikes in people with normal glucose regulation, pre-diabetes and type 2 diabetes

多模态人工智能与血糖调节正常者、糖尿病前期患者和 2 型糖尿病患者血糖峰值的相关性

Carletti, Mattia; Pandit, Jay; Gadaleta, Matteo; Chiang, Danielle; Delgado, Felipe; Quartuccio, Katie; Fernandez, Brianna; Raygoza Garay, Juan Antonio; Torkamani, Ali; Miotto, Riccardo; Rossman, Hagai; Berk, Benjamin; Baca-Motes, Katie; Kheterpal, Vik; Segal, Eran; Topol, Eric J; Ramos, Edward; Quer, Giorgio

Spatial transcriptional landscape of human heart failure

人类心力衰竭的空间转录组图谱

Lee, Sang Eun; Joo, Jeong Ho; Hwang, Hee Sang; Chen, Shang-Fu; Evans, Douglas; Lee, Kyoung Yul; Kim, Kyung-Hee; Hyun, Junho; Kim, Min-Seok; Jung, Sung-Ho; Kim, Jae-Joong; Lee, Jeong Seok; Torkamani, Ali

A brain DNA co-methylation network analysis of psychosis in Alzheimer's disease

阿尔茨海默病精神病的脑DNA共甲基化网络分析

Kouhsar, Morteza; Weymouth, Luke; Smith, Adam R; Imm, Jennifer; Bredemeyer, Claudia; Wedatilake, Yehani; Torkamani, Ali; Bergh, Sverre; Selbæk, Geir; Mill, Jonathan; Ballard, Clive; Sweet, Robert A; Kofler, Julia; Creese, Byron; Pishva, Ehsan; Lunnon, Katie

Causal impact of genetically-determined fish and fish oil intake on epigenetic age acceleration and related serum markers

基因决定的鱼类和鱼油摄入量对表观遗传年龄加速及相关血清标志物的因果影响

Fabian, Paul; Blander, Gil; Deehan, Renee; Torkamani, Ali; Nogal, Bartek

AoUPRS: A cost-effective and versatile PRS calculator for the All of Us Program

AoUPRS:一款经济高效且功能全面的PRS计算器,适用于“我们所有人计划”。

Khattab, Ahmed; Chen, Shang-Fu; Wineinger, Nathan; Torkamani, Ali

Allele Specific Expression Quality Control Fills Critical Gap in Transcriptome Assisted Rare Variant Interpretation

等位基因特异性表达质量控制填补了转录组辅助罕见变异解读的关键空白

Ganapathy, Kaushik Ram; Song, Eric; Munro, Daniel; Torkamani, Ali; Mohammadi, Pejman

Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data

利用单倍型聚合等位基因特异性表达数据改进对大效应罕见遗传变异的识别

Ganapathy, Kaushik Ram; Broly, Martin; Silverstein, Sarah; Mendoza, Marcela; Song, Eric; Kotis, Bence; Hoffman, Paul; Torkamani, Ali; Adams, David R; Bonnemann, Carsten; Lappalainen, Tuuli; Mohammadi, Pejman