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

Analysis and benchmarking of small and large genomic variants across tandem repeats

对串联重复序列中大小基因组变异的分析和基准测试

English, Adam C; Dolzhenko, Egor; Ziaei Jam, Helyaneh; McKenzie, Sean K; Olson, Nathan D; De Coster, Wouter; Park, Jonghun; Gu, Bida; Wagner, Justin; Eberle, Michael A; Gymrek, Melissa; Chaisson, Mark J P; Zook, Justin M; Sedlazeck, Fritz J

A highly accurate risk factor-based XGBoost multiethnic model for identifying patients with skin cancer

一种基于风险因素的高精度XGBoost多民族模型,用于识别皮肤癌患者

D'Antonio, Matteo; G Gonzalez Rivera, Wilfredo; Greenes, Robert A; Gymrek, Melissa; Frazer, Kelly A

Genome-wide selection inference at short tandem repeats

短串联重复序列的全基因组选择推断

Huang, Bonnie; Durvasula, Arun; Mousavi, Nima; Ziaei-Jam, Helyaneh; Maksimov, Mikhail; Lohmueller, Kirk E; Gymrek, Melissa

Genetic analysis of elevated levels of creatinine and cystatin C biomarkers reveals novel genetic loci associated with kidney function

对肌酐和胱抑素C生物标志物水平升高进行基因分析,揭示了与肾功能相关的新基因位点。

D'Antonio, Matteo; Arthur, Timothy D; Gonzalez Rivera, Wilfredo G; Wu, Ximei; Nguyen, Jennifer P; Gymrek, Melissa; Woo-Yeong, Park; Frazer, Kelly A

Characterization of shared and ancestry-specific signals driving complex traits using multi-ancestry fine-mapping

利用多祖源精细定位技术,对驱动复杂性状的共享信号和祖源特异性信号进行表征

Mirmira, Tara; Ma, Nichole; Margoliash, Jonathan; Rivera, Wilfredo G Gonzalez; Amariuta, Tiffany; Frazer, Kelly A; Goren, Alon; Gymrek, Melissa

Admixture mapping identifies complex trait associations with local ancestry in the All of Us Research Program

混合映射分析揭示了“我们所有人”研究计划中复杂性状与当地祖先的关联。

Gonzalez Rivera, Wilfredo G; Liu, Youwen; Mirmira, Tara; Ma, Nichole; Kim, Jihoon; D' Antonio, Matteo; Dube, Umber; Frazer, Kelly A; Gymrek, Melissa

Modeling nonlinear and interaction effects of spatiotemporal and other non-genetic factors improves phenotypic prediction for complex traits

对时空及其他非遗传因素的非线性及交互作用进行建模,可提高复杂性状的表型预测精度。

DeVito, Ross; Gymrek, Melissa

Systematic evaluation of the impact of promoter proximal short tandem repeats on expression

系统评价启动子近端短串联重复序列对表达的影响

Zhang, Xuan; Zhang, Lingzhi; Wang, Ellice; Benton, Susan; Modolo, Eduardo; Maksimov, Mikhail; Shleizer-Burko, Sharona; Gong, Qingqing; Wang, Catherine; Lamkin, Michael; Mendenhall, Eric; Gymrek, Melissa; Goren, Alon

VADEr: Vision Transformer-Inspired Framework for Polygenic Risk Reveals Underlying Genetic Heterogeneity in Prostate Cancer

VADEr:受 Vision Transformer 启发的多基因风险框架揭示前列腺癌的潜在遗传异质性

Talwar, James V; Klie, Adam; Pagadala, Meghana S; Pasternak, Gil; Rose, Brent; Seibert, Tyler M; Gymrek, Melissa; Carter, Hannah

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism

长读长基因组测序阐明自闭症中结构和重复序列变异的多种功能后果

Mortazavi, Milad; Guevara, James; Diaz, Joshua; Tran, Stephen; Ziaei Jam, Helyaneh; Batalov, Sergey; Bainbridge, Matthew; Besterman, Aaron D; Gymrek, Melissa; Palmer, Abraham A; Sebat, Jonathan