Evidence map›Paper›PMID 42681149›Full record

ArticleMethods in molecular biology (Clifton, N.J.)2026

Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens.

Delfien Syx, Brecht Guillemyn, Sofie Symoens, Toon Rosseel, Kim De Leeneer, Fransiska Malfait

Abstract read
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In one paragraph

Article in Methods in molecular biology (Clifton, N.J.), 2026. 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

6 authors.

Delfien SyxDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Brecht GuillemynDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Sofie SymoensDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Toon RosseelDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Kim De LeeneerDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Fransiska MalfaitDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium. Fransiska.Malfait@UGent.be.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic defects in the genes encoding fibrillar collagen types I, II, III, V, and XI result in a variety of heritable connective tissue disorders. Next-generation sequencing (NGS) applications have facilitated the screening of these disease genes, but the interpretation of the obtained variants can be challenging. We describe a protocol for both targeted gene panel and exome-wide library preparation, bioinformatic pipeline, and variant classification and interpretation of germline variants in types I, II, III, V, and XI collagen.

Indexed as

Fibrillar CollagensGenetic VariationHigh-Throughput Nucleotide SequencingComputational BiologyEhlers-Danlos SyndromeHumansOsteogenesis ImperfectaSequence Analysis, DNAFibrillar CollagensEhlers–Danlos syndromesFibrillar collagensNext-generation sequencingOsteogenesis imperfectaStickler syndromeVariant interpretation

Identifiers

PMID42681149

What OpenQuestion holds

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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.