Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia

Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia

IntroductionChromosomal structural variations (SVs) play an important role in the formation of human cancers, including leukemias. However, many complex SVs cannot be identified by conventional tools, including karyotyping, fluorescence in situ hybridization, microarrays, and multiplex ligation-depe...

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Main Authors: Meng-Ju Melody Tsai, Hsiao-Jung Kao, Hsiao-Huei Chen, Chih-Hsiang Yu, Yin-Hsiu Chien, Wuh-Liang Hwu, Pui-Yan Kwok, Ni-Chung Lee, Yung-Li Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Genetics
Subjects:
chromosomal structural variation
optical genome mapping
whole genome sequencing
Leukemia
Bionano
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1496847/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1496847/full

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