Evidence map›Paper›PMID 38465480›Full record

Observational studyJournal of the European Academy of Dermatology and Venereology : JEADV2025

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

R Baardman, H H Lemmink, V K Yenamandra, S Z Commandeur-Jan, M Viel, K A Kooi, G F H Diercks, R Meijer, M van Geel, H Scheffer and 4 more

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Journal of the European Academy of Dermatology and Venereology : JEADV, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025
    Observational
  5. The power of next-generation-sequencing: A game-changer with limitations.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025
    Article
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

14 authors.

R BaardmanDepartment of Dermatology, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID https://orcid.org/0000-0002-6440-4915
H H LemminkDepartment of Genetics, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
V K YenamandraAcademy of Scientific and Innovative Research South Campus, CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.ORCID https://orcid.org/0000-0003-0502-9665
S Z Commandeur-JanDepartment of Genetics, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
M VielDepartment of Genetics, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
K A KooiDepartment of Genetics, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
G F H DiercksDepartment of Dermatology, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID https://orcid.org/0000-0001-8053-216X
R MeijerDepartment of Genetics, University Medical Center Nijmegen, University of Nijmegen, Nijmegen, The Netherlands.
M van GeelDepartment of Genetics, Maastricht University Medical Center, University of Maastricht, Maastricht, The Netherlands.ORCID https://orcid.org/0000-0002-0273-8020
H SchefferDepartment of Genetics, University Medical Center Nijmegen, University of Nijmegen, Nijmegen, The Netherlands.ORCID https://orcid.org/0000-0002-2986-0915
R J SinkeDepartment of Genetics, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID https://orcid.org/0000-0002-0497-4780
B Sikkema-RaddatzDepartment of Genetics, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID https://orcid.org/0000-0002-2239-9054
M C BollingDepartment of Dermatology, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID https://orcid.org/0000-0003-2086-9363
P C van den AkkerDepartment of Dermatology, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID https://orcid.org/0000-0002-3734-753X

Funding

DEBRA NetherlandsStichting Vlinderkind (Dutch Butterfly Child Foundation)
6 · The paper itself

Abstract

backgroundGenome diagnostics is considered gold standard diagnostics for epidermolysis bullosa (EB), a phenotypically and genetically heterogeneous group of rare disorders characterized by blistering and wounding of mucocutaneous tissues. EB is caused by pathogenic variants in genes encoding proteins of the dermo-epidermal junction. Accurate genetic diagnosis of EB is crucial for prognostication, counselling and precision-medicine. Genome diagnostics for EB started in 1991 with the introduction of Sanger sequencing (SS), analysing one gene at a time. In 2013, SS was superseded by next-generation sequencing (NGS), that allow for high-throughput sequencing of multiple genes in parallel. Several studies have shown a beneficial role for NGS in EB diagnostics, but its true benefit has not been quantified.

objectivesTo determine the benefit of NGS in EB by systematically evaluating the performance of different genome diagnostics used over time based on robust data from the Dutch EB Registry.

methodsThe diagnostic performances of SS and NGS were systematically evaluated in a retrospective observational study including all index cases with a clinical diagnosis of EB in whom genome diagnostics was performed between 01 January 1994 and 01 January 2022 (n = 308), registered at the Dutch EB Expertise Centre.

resultsOver time, a genetic diagnosis was made in 289/308 (94%) EB cases. The diagnostic yield increased from 89% (SS) to 95% (NGS). Most importantly, NGS significantly reduced diagnostic turnaround time (39 days vs. 211 days, p < 0.001). The likelihood of detecting variants of uncertain significance and additional findings increased from 5% and 1% (SS) to 22% and 13% (NGS) respectively.

conclusionsOur study quantifies the benefit of NGS-based methods and demonstrate they have had a major impact on EB diagnostics through an increased diagnostic yield and a dramatically decreased turnaround time (39 days). Although our diagnostic yield is high (95%), further improvement of genome diagnostics is urgently needed to provide a genetic diagnosis in all EB patients.

Indexed as

Epidermolysis BullosaHigh-Throughput Nucleotide SequencingAdultChildFemaleHumansMaleRetrospective Studies

Identifiers

PMID38465480
PMCPMC11664470

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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.