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Updated: Jun 24, 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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在6224个未解决的罕见疾病外源中,结构变异调用和临床解释

German Demidov1, Steven Laurie2, Annalaura Torella3,4

  • 1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. German.Demidov@med.uni-tuebingen.de.

European journal of human genetics : EJHG
|May 31, 2024
PubMed
概括

结构变异 (SV) 调用外体序列 (ES) 改善了罕见疾病的诊断. 这种方法确定了其他分析遗漏的致病性SVs,增加了未解决患者队列的诊断产量.

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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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