Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains

Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains

Structural variants (SVs) significantly contribute to human disease, but their complexity often makes accurate characterization difficult with conventional methods. Advances in long-read sequencing (LRS) offer potential by spanning kilobases and directly resolving SVs. In this study, we examined two...

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Bibliographic Details
Main Authors: Jade Fauqueux, Jean-Pascal Meneboo, Roseline Caumes, Luc Thomès, Emilie Ait Yahya, Caroline Thuillier, Elise Boudry, Celine Villenet, Martin Figeac, Jamal Ghoumid, Thomas Smol
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Computational and Structural Biotechnology Journal
Subjects:
Long Read Sequencing
Nanopore
Cytogenomics
RERE
ZMYM2
Online Access:http://www.sciencedirect.com/science/article/pii/S2001037025001515
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