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通过基因组测序,向代谢学和机器学习来提高新生儿查的准确性

Yuhan Xie1,2, Gang Peng3, Irina Tikhonova1

  • 1Department of Genetics, Yale School of Medicine, New Haven, CT, USA.

BMC medical genomics
|November 19, 2025
PubMed
概括

将基因组测序和AI/ML与代谢学相结合,可以提高新生儿代谢障碍查 (NBS) 的准确性. 这种方法提高了早期检测,并减少了诊断延迟,最大限度地减少了NBS的错误阳性.

关键词:
干燥的血液斑点 干燥的血液斑点机器学习是机器学习.代谢障碍是一种代谢障碍.代谢学概况分析分子诊断学 分子诊断学新生儿查 新生儿查这是下一代测序.罕见疾病是一种罕见的疾病.

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