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Updated: Dec 20, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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转录表达意识注释改善了罕见变体的解释

Beryl B Cummings1,2,3, Konrad J Karczewski1,2, Jack A Kosmicki1,2,4

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nature
|May 29, 2020
PubMed
概括

解释罕见的遗传变异是一个挑战. 一种使用外子表达水平的新方法提高了识别致病变异的准确性,特别是在剂量敏感的基因中.

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