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Article

Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic Leukemia.

Genes - 19 Jan 2026

Chakraborty Soma Roy, Bickford Michelle A, Smuliac Narcisa A, Tonseth Kyle A, Bao Jing, Murad Farzana, Domínguez Vigil Irma G, Steinmetz Heather B, Wainman Lauren M, Shah Parth, Bengtson Elizabeth M, PonnamReddy Swaroopa, Harmon Gabriella A, Donnelly Liam L, Tafe Laura J, Karrs Jeremiah X, Kaur Prabhjot, Khan Wahab A

Abstract excerpt

Background: Optical genome mapping (OGM) detects genome-wide structural variants (SVs), including balanced rearrangements and complex copy-number alterations beyond standard-of-care cytogenomic assays. In chronic lymphocytic leukemia (CLL), cytogenetic and genomic risk stratification is traditionally based on fluorescence in situ hybridization (FISH), karyotyping, targeted next-generation sequencing (NGS), and...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomic Structural Variation

Share to High-Throughput Nucleotide Sequencing

Share to Immunoglobulin Heavy Chains

Share to In Situ Hybridization, Fluorescence

Share to Leukemia, Lymphocytic, Chronic, B-Cell

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Source

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Identifiers

PMID: 41595525
DOI: 10.3390/genes17010106
PMCID: PMC12840957

Genes

IGH
ATM
BCL11A
BCL2
BCL3
CCND1
IGL
RB1
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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