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

ABSTRACT:

Introduction

Chromosomal 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-dependent probe amplification (MLPA).

Methods

Optical genome mapping (OGM) and whole genome sequencing (WGS) were employed to analyze five leukemia samples with SVs detected by karyotyping, MLPA, and RNA sequencing (RNA-seq). OGM was performed using the Saphyr chip on a Bionano Saphyr system. Copy number variation and rare variant assembly analyses were performed with Bionano software v3.7. WGS was analyzed by the Manta program for SVs.

Results

The leukemia samples had

SUBMITTER: Tsai MM 

PROVIDER: S-EPMC12000080 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature