Evidence map›Paper›PMID 33633722›Full record

ReviewFrontiers in immunology2020

Current Developments of Clinical Sequencing and the Clinical Utility of Polygenic Risk Scores in Inflammatory Diseases.

Matthias Hübenthal, Britt-Sabina Löscher, Jeanette Erdmann, Andre Franke, Damian Gola, Inke R König, Hila Emmert

Open access · goldAbstract readReview
In one paragraph

Review in Frontiers in immunology, 2020. 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
0.4field-weighted citation impact, top 44% 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, 7 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Review
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

7 authors at 3 institutions in 1 country.

Matthias HübenthalDepartment of Dermatology, Quincke Research Center, University Hospital Schleswig-Holstein, Kiel, Germany.
Britt-Sabina LöscherInstitute of Clinical Molecular Biology, Christian-Albrechts University of Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
Jeanette ErdmannInstitute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts University of Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
Damian GolaInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
Inke R KönigInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
Hila EmmertDepartment of Dermatology, Quincke Research Center, University Hospital Schleswig-Holstein, Kiel, Germany.
University Hospital Schleswig-Holstein · DEUniversity of Lübeck · DEKiel University · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this mini-review, we highlight selected research by the Deutsche Forschungsgemeinschaft (DFG) Cluster of Excellence "Precision Medicine in Chronic Inflammation" focusing on clinical sequencing and the clinical utility of polygenic risk scores as well as its implication on precision medicine in the field of the inflammatory diseases inflammatory bowel disease, atopic dermatitis and coronary artery disease. Additionally, we highlight current developments and discuss challenges to be faced in the future. Exemplary, we point to residual challenges in detecting disease-relevant variants resulting from difficulties in the interpretation of candidate variants and their potential interactions. While polygenic risk scores represent promising tools for the stratification of patient groups, currently, polygenic risk scores are not accurate enough for clinical setting. Precision medicine, incorporating additional data from genomics, transcriptomics and proteomics experiments, may enable the identification of distinct disease pathogeneses. In the future, data-intensive biomedical innovation will hopefully lead to improved patient stratification for personalized medicine.

Indexed as

Decision Support TechniquesExome SequencingChronic DiseaseClinical Decision-MakingGenetic MarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansInflammationPhenotypePrecision MedicinePredictive Value of TestsPrognosisRisk AssessmentRisk FactorsGenetic Markersatopic dermatitiscoronary artery diseasegenome-wide association studiesinflammationinflammatory bowel diseasepolygenic risk scorewhole-exome sequencing

Identifiers

PMID33633722
PMCPMC7901950
OpenAlexW3127231565

What Socratic 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 Socratic graph.