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Updated: Sep 15, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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

Published on: January 16, 2019

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蛋白质和多基因风险评分的大规模评估揭示了对发生疾病预测的互补贡献

Jakob Woerner1, Thomas M Westbrook1, Jaehyun Joo1

  • 1Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.

medRxiv : the preprint server for health sciences
|July 17, 2025
PubMed
概括

血蛋白质组风险评分 (ProRS) 在预测许多疾病风险方面明显优于遗传风险评分 (PRS). ProRS提供动态,时间响应的洞察力,改善早期疾病检测.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

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

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