Article

Investigation of a Pathogenic Inversion in<i>UNC13D</i>and Comprehensive Analysis of Chromosomal Inversions Across Diverse Datasets

2024-10-29

Abstract excerpt

<h4>ABSTRACT</h4> Inversions are known contributors to the pathogenesis of genetic diseases. Identifying inversions poses significant challenges, making it one of the most demanding structural variants (SVs) to detect and interpret. Recent advancements in sequencing technologies and the development of publicly available SV datasets have substantially enhanced our capability to explore inversions. However, a cross-...

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Literature Corpus work: 57e7e186-2316-56a4-a56e-61f112f555ae
DOI: 10.1101/2024.10.28.24315942

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