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Updated: Jul 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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身体细胞结构变异突变发生和神经系统疾病

James R Lupski1

  • 1Departments of Molecular & Human Genetics, and of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA.

Cell genomics
|August 21, 2023
PubMed
概括

身体结构变异突变发生可能通过产生罕见变异等位基因导致精神分裂症. 这项研究重新分析了基因定型数据,以检测生物体的马赛克状态,为神经疾病易感性提供了新的见解.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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