Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders

Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders

Rare genetic diseases are often caused by structural variants (SVs), such as insertions, deletions, duplications, inversions, and complex rearrangements. However, due to the technical limitations of short-read sequencing, these variants remain underdiagnosed. Long-read sequencing technologies, inclu...

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Main Authors: Efthalia Moustakli, Panagiotis Christopoulos, Anastasios Potiris, Athanasios Zikopoulos, Despoina Mavrogianni, Grigorios Karampas, Nikolaos Kathopoulis, Ismini Anagnostaki, Ekaterini Domali, Alexandros T. Tzallas, Peter Drakakis, Sofoklis Stavros
Format: Article
Language:English
Published: MDPI AG 2025-07-01
Series:Diagnostics
Subjects:
genome sequencing
genetic diagnosis
clinical genomics
structural variants
copy number variations
bioinformatics
Online Access:https://www.mdpi.com/2075-4418/15/14/1803
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