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Updated: Jul 11, 2025

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结构和非编码变异增加了罕见疾病临床全基因组测序的诊断产量

Alistair T Pagnamenta1,2, Carme Camps1,2, Edoardo Giacopuzzi1,2,3

  • 1Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.

Genome medicine
|November 10, 2023
PubMed
概括

全基因组测序 (WGS) 可以改善罕见疾病的诊断. 包括非编码区域在内的全面WGS分析显著增加了诊断产量,并确定了新的疾病基因.

关键词:
生物信息学发展管道的发展.临床影响 临床影响诊断收益率是一个问题.基因组测序是指基因组的测序.没有编码的非编码.管道优化 管道优化罕见疾病是一种罕见的疾病.拼接位置的变体结构变体 结构变体

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