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

Abstract 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 a...

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Автори: Griet De Clercq, Lies Vantomme, Barbara Dewaele, Bert Callewaert, Olivier Vanakker, Sandra Janssens, Bart Loeys, Mojca Strazisar, Wouter De Coster, Joris Robert Vermeesch, Annelies Dheedene, Björn Menten
Формат: Artigo
Мова:Inglês
Опубліковано: Nature Portfolio 2024-11-01
Серія:Scientific Reports
Предмети:
Long-read sequencing
Optical genome mapping
Structural variation
Clinical genomics
Chromothripsis
Complex genomic rearrangements
Онлайн доступ:https://doi.org/10.1038/s41598-024-80068-z
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