Evidence map›Paper›PMID 36974069›Full record

ArticlemedRxiv : the preprint server for health sciences2023

The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology.

Linnaeus Bundalian, Yin-Yuan Su, Siwei Chen, Akhil Velluva, Anna Sophia Kirstein, Antje Garten, Saskia Biskup, Florian Battke, Dennis Lal, Henrike O Heyne and 5 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. 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, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 6 institutions in 4 countries.

Linnaeus BundalianInstitute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.
Yin-Yuan SuInstitute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Siwei ChenAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Akhil VelluvaDivision of General Biochemistry, Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, Leipzig University, 04103, Leipzig, Germany.
Anna Sophia KirsteinPediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103, Leipzig, Germany.
Antje GartenPediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103, Leipzig, Germany.
Saskia BiskupCeGaT GmbH, 72076, Tuebingen, Germany.
Florian BattkeCeGaT GmbH, 72076, Tuebingen, Germany.
Dennis LalAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Henrike O HeyneProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.
Chen-Ching LinInstitute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.
Diana Le DucInstitute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.
Epi25 Collaborative
Leipzig University · DEBroad Institute · USCeGaT (Germany) · DEMax Planck Institute for Evolutionary Anthropology · DENational Yang Ming Chiao Tung University · TWUniversity of Cologne · DE

Funding

Center for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2M
Powering whole genome sequence-based genetic discovery for common human diseases- Extended 2021-2022.U01HG009088 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LIN, XIHONG, NEALE, BENJAMIN MICHAEL · 2016 to 2021
$5.1M
NHGRI NIH HHS U01 HG009088NHGRI NIH HHS UM1 HG008895
6 · The paper itself

Abstract

Previous studies suggested that severe epilepsies e.g., developmental and epileptic encephalopathies (DEE) are mainly caused by ultra-rare

Identifiers

PMID36974069
PMCPMC10041669
OpenAlexW4317387816

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.