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Updated: Jun 17, 2025

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

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关节病学家临床遗传学的原则:临床指示和广泛基因测试的解释

Renan Rodrigues Neves Ribeiro do Nascimento1, Caio Robledo D'Angioli Costa Quaio2, Christine Hsiaoyun Chung3

  • 1Disciplina de Reumatologia, Universidade Federal de Sao Paulo, Escola Paulista de Medicina, Rua Otonis, 863, Sao Paulo, SP, 04025-002, Brazil.

Advances in rheumatology (London, England)
|August 14, 2024
PubMed
概括

下一代测序 (NGS) 改变了类风湿病的诊断,使得精准医学成为可能. 在诊断罕见的遗传疾病和解释具有不确定的意义 (VUS) 的变异方面仍然存在挑战.

关键词:
在DNA测序技术方面,基因检测是一种基因检测.免疫介导的类风湿性疾病.分子诊断是一种分子诊断.主要免疫调节性疾病.

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

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