Uradzislau Korzun on Muck Rack

Uradzislau Korzun

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Articles

A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient

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By Hiroyuki Mishima, Yoriko Watanabe, Koh-Ichiro Yoshiura, Uradzislau Korzun
| Nature Verified
Abstract Long-read sequencing (LRS) is a powerful tool for detecting structural variants (SVs), which are major causes of genetic diseases. However, the application of trio-based analysis to LRS data remains challenging due to the complexity of merging and comparing SVs across individuals. Here, we established a workflow to prioritize pathogenic SVs using trio-based LRS whole-genome sequencing.
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