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Updated: Jun 29, 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

Published on: August 20, 2019

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用外体测序无法解决的病例的基因组测序:在30年前的病例中确定TBCK中的单个外体删除

Maureen Jacob1,2, Melanie Brugger1,2, Stephanie Andres3

  • 1Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.

Neuropediatrics
|March 28, 2024
PubMed
概括

基因组测序 (GS) 检测到TBCK中错过的单个外显子删除,改善了神经发育障碍 (NDD) 诊断. 这突出了GSGS的重点.

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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. 
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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