全基因组测序作为新生儿重症监护室婴儿的一级诊断测试:巴西的一项试点研究

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Michele P Migliavacca1, Joselito Sobreira1,2, Diana Bermeo1

  • 1Diagnósticos da América S.A., DASA, São Paulo, Brazil.

American journal of medical genetics. Part A
|January 23, 2024
PubMed
概括

全基因组测序 (WGS) 是巴西重症婴儿的可行一级诊断测试. 这项试点研究显示了57%的诊断收益率,识别了新型变异,并超过了传统的遗传测试.

关键词:
临床儿科 临床儿科诊断收益率是指诊断收益率.遗传性疾病 遗传性疾病下一代测序 (NGS) 是指下一代的测序.三人组测试测试 三人组测试整个基因组的测序.

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