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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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Updated: Jan 7, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

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Published on: October 10, 2025

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children

Catherine A Brownstein^1,2, Caspar I van der Made³, Kristin Cabral¹

¹Division of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.

Advanced Genetics (Hoboken, N.J.)

|December 31, 2025

Summary

This summary is machine-generated.

Optical Genome Mapping identified rare structural variants in children with Multisystem Inflammatory Syndrome (MIS-C). These genetic findings may explain disease variations and susceptibility to severe COVID-19 or Kawasaki Disease.

Keywords:

MIS‐C SARS‐CoV‐2 optical genome mapping

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Area of Science:

Genetics
Pediatrics
Immunology

Background:

Multisystem Inflammatory Syndrome in Children (MIS-C) is a serious pediatric condition linked to SARS-CoV-2 infection.
MIS-C often involves multiorgan inflammation and cardiovascular issues.
Understanding the genetic underpinnings of MIS-C is crucial for explaining disease heterogeneity.

Purpose of the Study:

To investigate the utility of Optical Genome Mapping (OGM) in identifying structural variants in patients with MIS-C.
To explore potential genetic factors contributing to MIS-C, MIS-C-like presentations, and severe COVID-19 outcomes.

Main Methods:

A prospective cohort study involving 14 pediatric patients (11 with MIS-C, 3 with MIS-C-like presentations).
Optical Genome Mapping (OGM) was performed on all patients.
Structural Variants (SVs) and Copy Number Variations (CNVs) were identified and filtered against control databases.

Main Results:

Seven out of 14 patients (50%) had prioritized variants near genes involved in immune regulation or SARS-CoV-2 response.
Identified variants included insertions/deletions in ORAI1, STAT4, ITPR1, BATF, CFHR5, and DOCK2.
OGM revealed SVs potentially influencing inflammation, COVID-19 severity, and Kawasaki Disease susceptibility.

Conclusions:

OGM is a feasible and valuable tool for assessing complex pediatric syndromes like MIS-C.
Rare structural variants may contribute to the diverse clinical presentations and severity of MIS-C.
These findings offer biologically plausible mechanisms for MIS-C heterogeneity and susceptibility.