Evidence map›Paper›PMID 40884644›Full record

ArticleMethods in molecular biology (Clifton, N.J.)2025

Identification and Characterization of Chromothripsis by Optical Genome Mapping.

Pascal Chambon, Mathilde Quibeuf, Anne Marie Guerrot

Abstract read
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In one paragraph

Article in Methods in molecular biology (Clifton, N.J.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Pascal ChambonDepartment of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, INSERM U1245 and CHU Rouen, Rouen, France. pascal.chambon@chu-rouen.fr.
Mathilde QuibeufDepartment of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, INSERM U1245 and CHU Rouen, Rouen, France.
Anne Marie GuerrotDepartment of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, INSERM U1245 and CHU Rouen, Rouen, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Optical genome mapping (OGM) is a robust method for identifying and characterizing chromothripsis. While conventional short-read sequencing techniques encounter challenges in detecting chromothripsis due to limitations in read length and difficulties in analyzing repetitive sequences, OGM leverages the visualization of long DNA molecules to overcome these obstacles. OGM involves a multi-step process, starting with the extraction of ultra-high molecular weight DNA, followed by fluorescent labeling and imaging of the stretched molecules in nanochannels. A specific computational pipeline analyzes the resulting data to detect and categorize structural variations and copy number variations, offering a comprehensive, high-resolution view of genetic alterations across the genome. Despite certain limitations, such as the requirement for specialized DNA extraction and the inability to detect specific types of variations, OGM stands out as a powerful tool for chromothripsis detection and characterization, complementing existing methods and providing valuable insights into genome structure and variations.

Indexed as

Chromosome MappingChromothripsisComputational BiologyDNADNA Copy Number VariationsGenome, HumanHumansDNAChromothripsisLong readOptical genome mapping (OGM)

Identifiers

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.