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Updated: Jun 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

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

Published on: June 21, 2018

临床评估包括个人基因组

Euan A Ashley1, Atul J Butte, Matthew T Wheeler

  • 1Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA. euan@stanford.edu

Lancet (London, England)
|May 4, 2010
PubMed
概括

在临床环境中,全基因组测序发现了心肌梗塞,糖尿病和癌症的显著遗传风险. 还发现了与突然心脏死亡和药物反应相关的罕见变异,证明了临床效用.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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