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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Updated: Sep 23, 2025

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma

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Published on: June 10, 2017

Optical genome mapping for structural variation analysis in hematologic malignancies.

Adam C Smith^1,2, Kornelia Neveling³, Rashmi Kanagal-Shamanna⁴

¹Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.

American Journal of Hematology

|May 13, 2022

Summary

This summary is machine-generated.

Optical genome mapping (OGM) offers a streamlined approach to genetic testing, detecting structural variations efficiently. This advanced technology can replace multiple conventional tests, improving accuracy and reducing costs in clinical genetics.

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Area of Science:

Genomics and Clinical Diagnostics
Molecular Cytogenetics

Background:

Clinical genetics laboratories utilize multiple tests for structural variation detection.
Conventional methods include karyotype, fluorescence in situ hybridization (FISH), and chromosomal microarray.
These methods can be labor-intensive and time-consuming.

Purpose of the Study:

To review the principles, strengths, and weaknesses of Optical Genome Mapping (OGM).
To compare OGM with standard of care techniques for detecting structural variations.
To illustrate the clinical utility of OGM in hematologic malignancies.

Main Methods:

Optical Genome Mapping (OGM) technology.
Comparison of OGM with conventional karyotyping, FISH, and chromosomal microarray.
Review of clinical utility in acute myeloid leukemia, myelodysplastic syndromes, and B cell acute lymphoblastic leukemia.

Main Results:

OGM detects a wide range of structural variations (translocations, inversions, deletions, duplications).
OGM can replace multiple standard tests, simplifying lab workflow.
OGM demonstrates superior ability to detect and resolve abnormalities compared to karyotyping and FISH.
OGM may face challenges with non-diploid karyotypes.

Conclusions:

OGM significantly reduces cost and turnaround time by consolidating multiple tests.
OGM is poised to become a frontline testing method in clinical genetics.
OGM shows significant clinical utility in diagnosing and managing hematologic malignancies.