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结合优先级策略和功能研究,提名了5'UTR变异,是遗传性视网膜疾病的基础

Alfredo Dueñas Rey1,2, Marta Del Pozo Valero1,2,3, Manon Bouckaert1,2

  • 1Center for Medical Genetics Ghent (CMGG), Ghent University Hospital, Ghent, Belgium.

Genome medicine
|January 6, 2024
PubMed
概括

预测5-prime未翻译区域 (5'UTR) 变异在遗传性视网膜疾病 (IRD) 的影响是具有挑战性的. 这项研究开发了一个新的策略来识别和验证这些变体,改善IRD的诊断能力.

关键词:
5未经翻译的地区 (5UTR)功能研究是指功能研究.在的优先级优先级.遗传性视网膜疾病 (IRD) 是一种遗传性视网膜疾病.非编码的变体变化.上游开放的阅读框架 (uORF)变体解释的变体解释整体外基因组测序 (WES) 测序全基因组测序 (WGS) 是一种全基因组测序.

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