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Size and Structure of Viral Genomes

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Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
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Viruses are extraordinarily diverse in shape and size, but they all have several structural features in common. All viruses have a core that contains a DNA- or RNA-based genome. The core is surrounded by a protective coat of proteins called the capsid. The capsid is composed of subunits called capsomeres. The capsid and genome-containing core are together known as the nucleocapsid.
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic

Soma Roy Chakraborty1,2, Michelle A Bickford3, Narcisa A Smuliac3

  • 1Division of Hematopathology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH 03756, USA.

Genes
|January 28, 2026
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Summary
This summary is machine-generated.

Optical genome mapping (OGM) offers a comprehensive view of structural variants in chronic lymphocytic leukemia (CLL), improving risk stratification. Integrating OGM with next-generation sequencing (NGS) refines genomic classification for personalized CLL management.

Keywords:
FISHIGHV mutation statuschronic lymphocytic leukemianext-generation sequencingoptical genome mappingstructural variantstime-to-first treatment

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Area of Science:

  • Genomics and bioinformatics
  • Hematologic oncology
  • Molecular diagnostics

Background:

  • Chronic lymphocytic leukemia (CLL) risk stratification traditionally relies on limited cytogenetic and genomic assays.
  • Existing methods like FISH, karyotyping, and targeted NGS interrogate only specific genomic regions.
  • Optical genome mapping (OGM) offers genome-wide detection of structural variants (SVs), including balanced rearrangements and complex copy-number alterations.

Purpose of the Study:

  • To evaluate the utility of OGM in detecting structural variants in CLL.
  • To integrate OGM findings with existing cytogenomic, NGS, and IGHV data for enhanced risk stratification.
  • To assess the correlation between OGM-identified genomic profiles and clinical outcomes, specifically time-to-first-treatment (TTFT).

Main Methods:

  • Retrospective analysis of 50 CLL patients using OGM.
  • Integration of OGM data with cytogenomics, targeted NGS, IGHV mutational status, and clinical TTFT data.
  • Detection of structural variants by OGM and pathogenic NGS variants from a clinical heme malignancy panel.

Main Results:

  • OGM identified reportable structural variants in 82% of CLL cases.
  • Common abnormalities included del(13q) (58%), with distinct large RB1-spanning and focal miR15a/miR16-1 deletions.
  • Adverse lesions (del(11q)/ATM, BIRC3 loss, trisomy 12, del(17p)/TP53) and cryptic rearrangements (e.g., IGL::CCND1, IGH::BCL2) were identified and associated with shorter TTFT.
  • IGHV-unmutated status frequently co-segregated with high-risk OGM profiles, while mutated IGHV predominated in OGM-negative or simple del(13q) cases.
  • Integration of OGM and NGS improved genomic risk classification, especially in cases with discordant routine testing.

Conclusions:

  • OGM provides a comprehensive genome-wide view of structural variation in CLL, resolving deletion architecture and identifying cryptic translocations.
  • OGM-defined complex genomic profiles correlate closely with clinical behavior in CLL.
  • Combined OGM and NGS analysis refines risk stratification beyond standard FISH panels, supporting precise, individualized CLL management strategies.