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Updated: Jul 5, 2025

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一个基因致病性工具"GenePy"在10万个基因组项目中识别了错过的双基因诊断

Eleanor G Seaby1, Gary Leggatt2, Guo Cheng2

  • 1Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, United Kingdom; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Paediatric Infectious Diseases, Imperial College London, London, United Kingdom.

Genetics in medicine : official journal of the American College of Medical Genetics
|January 21, 2024
PubMed
概括

一个名为GenePy的新工具,在100,000个基因组项目的罕见疾病参与者中确定了潜在的错过诊断. 这一策略通过分析超越标准基因组的变异来增强遗传诊断.

关键词:
诊断提升升高的方法这是下一代测序.新的方法 新的方法.罕见疾病是一种罕见的疾病.衰退性疾病是一种衰退性疾病.

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