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Updated: Jun 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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使用Exomiser有效地重新解释罕见疾病病例

Letizia Vestito1, Julius O B Jacobsen1, Susan Walker2

  • 1William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK.

NPJ genomic medicine
|December 18, 2024
PubMed
概括

使用Exomiser重新分析全基因组测序数据,可以发现新的罕见疾病诊断. 这种由表型驱动的工具有效地优先考虑变体,改善未解决病例的诊断产量.

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相关概念视频

Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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