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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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关于ALS遗传检测和咨询的基于证据的共识指南.

Jennifer Roggenbuck1,2, Breda H F Eubank3, Joshua Wright2

  • 1Division of Human Genetics, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.

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所有患有肌缩性侧面硬化症 (ALS) 的人都应该接受基因检测,包括C9orf72,SOD1,FUS和TARDBP测序. 这些指南旨在规范ALS患者的遗传咨询和测试实践.

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科学领域:

  • 遗传学 是一个遗传学.
  • 神经学 神经学
  • 临床指南 临床指南

背景情况:

  • 肌缩侧面硬化症 (ALS) 基因发现和治疗试验的进步增加了对遗传测试的需求.
  • 然而,基因检测尚未成为所有ALS患者的标准护理.
  • 需要对遗传咨询和检测实践进行标准化.

研究的目的:

  • 为ALS遗传咨询和测试制定临床指南.
  • 为照顾ALS患者的医疗保健提供者改善和标准化遗传咨询和测试实践.

主要方法:

  • 确定了核心临床问题,并使用PRISMA-P 2015方法进行了快速审查.
  • 通过GRADE和EGAPP系统起草了建议,并评估了证据的强度.
  • 为了达到专家的共识,使用了修改后的Delphi方法.

主要成果:

  • 总共制定了35个指导性陈述.
  • 所有患有ALS的人都应该接受单步基因检测,包括C9orf72测定和SOD1,FUS和TARDBP的测序.
  • 概述了测试前和后的关键教育和风险评估,并为实验室提供指导.

结论:

  • 这些基于证据的指导方针将帮助ALS社区管理基因测试的好处和挑战.
  • 标准化指南将提高ALS患者遗传服务的一致性和质量.