Evidence map›Paper›PMID 38929869›Full record

ArticleJournal of personalized medicine2024

Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of personalized medicine, 2024. 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

18 authors.

Dennis KraemerInstitute of Medical Genetics (IMG), University of Zurich (UZH), Wagistrasse 12, CH-8952 Zurich, Switzerland.
Dillenn TerumalaiSwiss Institute of Bioinformatics (SIB), Clinical Bioinformatics, CH-1202 Geneva, Switzerland.
Maria Livia FamigliettiSwiss Institute of Bioinformatics (SIB), Swiss-Prot Group, CH-1211 Geneva, Switzerland.ORCID 0000-0002-5283-6593
Isabel FilgesMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, CH-4031 Basel, Switzerland.ORCID 0000-0002-2149-6354
Pascal JosetMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, CH-4031 Basel, Switzerland.
Samuel KollerInstitute of Medical Molecular Genetics (IMMG), University of Zurich (UZH), Wagistrasse 12, CH-8952 Zurich, Switzerland.ORCID 0000-0003-0965-0539
Fabienne MaurerDivision of Genetic Medicine, Lausanne University Hospital (CHUV), CH-1011 Lausanne, Switzerland.
Stéphanie MeierMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, CH-4031 Basel, Switzerland.
Thierry NouspikelGenetic Medicine Division, Diagnostics Department/Center for Genomic Medicine, Geneva University Hospitals (HUG), 1206 Geneva, Switzerland.ORCID 0000-0002-6650-9147
Javier SanzDepartment of Human Genetics, Inselspital, Bern University Hospital, CH-3010 Bern, Switzerland.ORCID 0000-0001-6386-0313
Christiane ZweierDepartment of Human Genetics, Inselspital, Bern University Hospital, CH-3010 Bern, Switzerland.
Marc AbramowiczGenetic Medicine Division, Diagnostics Department/Center for Genomic Medicine, Geneva University Hospitals (HUG), 1206 Geneva, Switzerland.
Wolfgang BergerInstitute of Medical Molecular Genetics (IMMG), University of Zurich (UZH), Wagistrasse 12, CH-8952 Zurich, Switzerland.ORCID 0000-0002-0370-3815
Sven CichonMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, CH-4031 Basel, Switzerland.
André SchallerDepartment of Human Genetics, Inselspital, Bern University Hospital, CH-3010 Bern, Switzerland.ORCID 0000-0001-5174-5764
Andrea Superti-FurgaDivision of Genetic Medicine, Lausanne University Hospital (CHUV), CH-1011 Lausanne, Switzerland.ORCID 0000-0002-3543-7531
Valérie BarbiéSwiss Institute of Bioinformatics (SIB), Clinical Bioinformatics, CH-1202 Geneva, Switzerland.
Anita RauchInstitute of Medical Genetics (IMG), University of Zurich (UZH), Wagistrasse 12, CH-8952 Zurich, Switzerland.ORCID 0000-0003-2930-3163

Funding

SPHN 2018DEV13
6 · The paper itself

Abstract

Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance (VUSs) are a challenge to personalized medicine. This challenge is further compounded by the complexity and heterogeneity of the standards used to describe genetic variants and the associated phenotypes when searching for relevant information to support clinical decision making. To address this, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of Bioinformatics (SIB) to create

Indexed as

expert-curated variant interpretationgenotype–phenotype databasenational mutation databaseNGSpersonalized medicineSwissGenVarSwitzerland

Identifiers

PMID38929869
PMCPMC11204794

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.