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Karen Eilbeck

biomedical informatics
H指数:32
被引数:2.5万

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Genetic risk of chronic pain conditions associated with risk of suicide death through an integrative analysis of EHR and genomics data

通过整合电子健康记录(EHR)和基因组学数据的综合分析,慢性疼痛状况的遗传风险与自杀死亡风险相关。

2026-02-160
OAAI
Participatory Workflow Analysis of Newborn Genetic Screening (NBS) to Support Tools for Improved Follow-Up: Comparing the Use Case of Hemoglobinopathy Traits Across U.S. States

参与式工作流分析新生儿遗传筛查(NBS)以支持改进随访工具:比较美国各州血红蛋白病性状的使用案例

2025-09-290
OAAI
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
2024-02-013
OAAI
Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes

自杀死亡的全基因组测序分析整合脑调控eQTLs数据以确定风险位点和基因

2023-10-044
OAAI
GA4GH: International policies and standards for data sharing across genomic research and healthcare

GA4GH: 跨基因组研究和医疗保健的数据共享的国际政策和标准

2021-11-0196
OAAI
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

先天性代谢错误 (IEM) 的序列变异解释的独特方面: ClinGen IEM工作组和苯丙氨酸羟化酶基因

2018-10-1140
OAAI
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings
2017-05-0115
OAAI
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling

Taxonomer: 用于通用病原体检测和宿主mRNA表达谱分析的交互式宏基因组学分析门户

2016-05-26125
OAAI