Article

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

2024-07-19

Abstract excerpt

Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping (OGM) can aid as their molecules span multiple kilobases and capture SVs in full. In this study, we selected six individuals who presented with unresolved SVs. We applied LRS onto all...

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Literature Corpus work: 08a01748-02fa-5723-9d26-1ad72eb26c6c
DOI: 10.1101/2024.07.18.24310562

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