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Updated: Jun 28, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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用外体序列和临床数据进行基因组首次评估,在一个大型医疗保健系统中发现了被诊断不足的遗传疾病

Iain S Forrest1, Áine Duffy2, Joshua K Park1

  • 1The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Medical Scientist Training Program, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Cell reports. Medicine
|April 20, 2024
PubMed
概括

全人口基因组查识别了许多具有疾病风险变异的个体. 这些患者中有很大一部分缺乏临床诊断,这显示出新的诊断和改善患者护理的潜力.

关键词:
美国医学遗传学和基因组学学院.生物银行生物银行乳腺癌 乳腺癌 乳腺癌心肌病性心脏病 - 心肌病性心脏病电子健康记录 电子健康记录外体序列的外体序列的序列.基因组第一的基因组.穿透 穿透 穿透 穿透精准医学是一门精准医学.在诊断不足的情况下.

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