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Updated: Jun 29, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

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临床遗传检测的特征趋势:对20多年来180万患者的EHR数据进行单中心分析

Lisa Bastarache1, Rory J Tinker2, Bryce A Schuler3

  • 1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

American journal of human genetics
|April 17, 2025
PubMed
概括

临床遗传测试的使用在20年内在电子健康记录中从1.0%升至6.1%. 这项研究量化了基因测试的数量.

关键词:
临床遗传学 临床遗传学临床遗传学数据库数据库电子健康记录是电子健康记录.遗传测试的利用 遗传测试的利用基因检测 基因检测是指基因检测.传染病编码 传染病编码 传染病编码这是一个全现象的现象.现型-基因型相关性相关性罕见病是一种罕见的疾病.不确定意义的变体.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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