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Updated: May 27, 2025

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    medRxiv : the preprint server for health sciences
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    PubMed
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    超高深度RNA测序显著改善了罕见转录和拼接变体的检测,增强了孟德尔病的诊断. 这种深度测序方法有助于解决具有不确定的意义的变异,并建立全面的参考数据库.

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