PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.

Jörg Schmidtke, Peter Philipp, Kathrin Rommel, Ralf Glaubitz, Jörg T Epplen, Michael Krawczak

Abstract read

In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing 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

1 citing paper in PubMed.

Diagnostic elusiveness of pathogenic variants in cases of autosomal recessive diseases.European journal of human genetics : EJHG · 2024
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

6 authors.

Jörg Schmidtkeamedes MVZ wagnerstibbe, Georgstrasse 50, D-30159 Hannover, Germany.ORCID 0000-0002-6094-0120

Peter Philippamedes Medizinische Dienstleistungen GmbH, Haferweg 40, D-22769 Hamburg, Germany.

Kathrin RommelBundesinstitut für Arzneimittel und Medizinprodukte (BfArM), Kurt-Georg-Kiesinger-Allee 3, D-53175 Bonn, Germany.

Ralf Glaubitzamedes MVZ wagnerstibbe, Georgstrasse 50, D-30159 Hannover, Germany.

Jörg T Epplenamedes MVZ wagnerstibbe, Georgstrasse 50, D-30159 Hannover, Germany.

Michael KrawczakInstitute of Medical Informatics and Statistics, Kiel University, University Hospital Schleswig-Holstein Campus Kiel, Brunswiker Strasse 10, D-24105 Kiel, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report upon PanelDesign, a framework to support the design of diagnostic next generation DNA sequencing panels with epidemiological information. Two publicly available resources, namely Genomics England PanelApp and Orphadata, were combined into a single data set to allow genes in a given NGS panel to be ranked according to the frequency of the associated diseases, thereby highlighting potential core genes as defined by the Eurogenetest/ESHG guidelines for diagnostic next generation DNA sequencing. In addition, PanelDesign can be used to evaluate the contribution of different genes to a given disease following ACMG (American College of Medical Genetics) technical standards.

Indexed as

Genetic TestingHigh-Throughput Nucleotide SequencingEnglandGenomicsHumansUnited Statescore genesEnglandeurogentest/ESHGgenetic epidemiologygenomicsorphadatapanelapprecommendations

Identifiers

PMID35456490

DOI10.3390/genes13040684

PMCPMC9030971

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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.