Evidence map›Paper›PMID 36938073›Full record

ArticleKidney international reports2023

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Christoph Heinrich Lindemann, Andrea Wenzel, Florian Erger, Lea Middelmann, Julika Borde, Eric Hahnen, Denise Krauß, Simon Oehm, Sita Arjune, Polina Todorova and 5 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Kidney international reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 27% of its field
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

4 citing papers in PubMed, 4 citations in OpenAlex.

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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

15 authors at 1 institution in 1 country.

Christoph Heinrich LindemannUniversity of Cologne, Faculty of Medicine and University Hospital Cologne, Department 2 of Internal Medicine, Cologne, Germany.
Andrea WenzelInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.
Florian ErgerInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.
Lea MiddelmannInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.
Julika BordeCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Denise KraußUniversity of Cologne, Faculty of Medicine and University Hospital Cologne, Department 2 of Internal Medicine, Cologne, Germany.
Simon OehmUniversity of Cologne, Faculty of Medicine and University Hospital Cologne, Department 2 of Internal Medicine, Cologne, Germany.
Sita ArjuneUniversity of Cologne, Faculty of Medicine and University Hospital Cologne, Department 2 of Internal Medicine, Cologne, Germany.
Polina TodorovaUniversity of Cologne, Faculty of Medicine and University Hospital Cologne, Department 2 of Internal Medicine, Cologne, Germany.
Kathrin BurgmaierDepartment of Pediatrics, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany.
Max Christoph LiebauDepartment of Pediatrics, Center for Family Health, Center for Rare Diseases Cologne and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Franziska GrundmannUniversity of Cologne, Faculty of Medicine and University Hospital Cologne, Department 2 of Internal Medicine, Cologne, Germany.
Bodo B BeckInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.
Roman-Ulrich MüllerUniversity of Cologne, Faculty of Medicine and University Hospital Cologne, Department 2 of Internal Medicine, Cologne, Germany.
University of Cologne · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Autosomal-dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure. Because of the heterogeneity in disease progression in ADPKD, parameters predicting future outcome are important. The disease-causing genetic variant is one of these parameters. Methods: A multiplex polymerase chain reaction (PCR)-based panel (MPP) was established for analysis of 6 polycystic kidney disease (PKD) genes ( Results: Using the MPP, disease-causing variants were detected in 65.3% of patients. Sanger sequencing and the custom gene panel in 32 patients who were MPP-negative revealed 20 variants missed by MPP, (estimated overall false negative rate 24.6%, false-positive rate 9.4%). Combining clinical and genetic data revealed that knowledge of the genotype could have impacted the treatment decision in 8.2% of patients with a molecular genetic diagnosis. Sequencing only the Conclusion: The MPP yields rapid genotype information at lower costs and allows for simple extension of the panel for new disease genes. Additional sequencing of the

Indexed as

ADPKDCKDnext generation sequencingPKDSanger sequencing

Identifiers

PMID36938073
PMCPMC10014381
OpenAlexW4313334087

What OpenQuestion holds

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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.