Evidence map›Paper›PMID 40884649›Full record

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

Visual Inspection of Sequencing Data for Diagnosis: Practical Guide to Structural Variant Analysis Using Integrative Genomics Viewer (IGV).

Benjamin Ganne, Clément Hersent, Vincent Gatinois, Franck Pellestor, Kevin Yauy

Abstract read
PubMed Publisher
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
–field-weighted citation impact
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

5 authors.

Benjamin GanneUnit of Chromosomal Genetics and Research Platform Chromostem, Department of Molecular Genetics and Cytogenomics, Site Unique de Biologie (SUB), Montpellier CHU, Montpellier, France. benjamin.ganne@chu-montpellier.fr.
Clément HersentUnit of Chromosomal Genetics and Research Platform Chromostem, Department of Molecular Genetics and Cytogenomics, Site Unique de Biologie (SUB), Montpellier CHU, Montpellier, France.
Vincent GatinoisUnit of Chromosomal Genetics and Research Platform Chromostem, Department of Molecular Genetics and Cytogenomics, Site Unique de Biologie (SUB), Montpellier CHU, Montpellier, France.
Franck PellestorUnit of Chromosomal Genetics and Research Platform Chromostem, Department of Molecular Genetics and Cytogenomics, Site Unique de Biologie (SUB), Montpellier CHU, Montpellier, France.
Kevin YauyUniv Montpellier, LIRMM, ERIOS, Reference Center for Congenital Anomalies, Clinical Genetic Unit, Montpellier University Hospital Center, Montpellier, France. kevin.yauy@chu-montpellier.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Next-generation sequencing (NGS) has revolutionized clinical genomics, enhancing structural variant (SV) analysis, especially found in chromothripsis. This guide focuses on key steps of SV interpretation using IGV, detailing methods for assessing SV veracity and distinguishing true SVs from artifacts. This resource aims to aid clinicians and researchers in effectively interpreting NGS-derived SV calling data to improve diagnostic accuracy and patient care.

Indexed as

Computational BiologyGenomicsGenomic Structural VariationHigh-Throughput Nucleotide SequencingSequence Analysis, DNASoftwareHumansBioinformaticsChromothripsisCopy number variationIGVStructural variation

Identifiers

PMID40884649

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.