Evidence map›Paper›PMID 37808701›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Philip Schroeder, Ravi Mandla, Alicia Huerta-Chagoya, Ahmed Alkanak, Dorka Nagy, Lukasz Szczerbinski, Jesper G S Madsen, Joanne B Cole, Bianca Porneala, Kenneth Westerman and 9 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

19 authors at 5 institutions in 4 countries.

Philip SchroederPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Ravi MandlaPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Alicia Huerta-ChagoyaPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Ahmed AlkanakPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Dorka NagySection of Genetics and Genomics, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.
Lukasz SzczerbinskiDepartment of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok, Bialystok, 15-276, Poland.
Jesper G S MadsenInstitute of Mathematics and Computer Science, University of Southern Denmark, Odense M, 5230, Denmark.
Joanne B ColePrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Bianca PornealaDivision of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA.
Kenneth WestermanPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Josephine H LiPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Toni I PollinEmory University, Atlanta, Georgia, USA., Atlanta, GA, USA.
Jose C FlorezPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Anna L GloynDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA, USA.
Inês CebolaSection of Genetics and Genomics, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.
Alisa ManningPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Aaron LeongPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Miriam UdlerPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Josep M MercaderPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Broad Institute · USGenomics (United Kingdom) · GBEmory University · USMassachusetts General Hospital · USStanford Medicine · US

Funding

Bridging the gap between type 2 diabetes GWAS and therapeutic targetsUM1DK126185 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CLAUSSNITZER, MELINA C, GLOYN, ANNA LOUISE · 2020 to 2024
$9.5M
Development of Polygenic Risk Scores for Diabetes and Complications across the Life-Span in Populations of Multiple AncestriesU01HG011723 · NHGRI · BROAD INSTITUTE, INC. · PI Alisa Knodle Manning, Josep Maria Mercader · 2021 to 2026
$5.7M
Elucidating the pharmacogenetics of the response to GLP-1 receptor agonists for type 2 diabetesK23DK131345 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Josephine H Li · 2022 to 2026
$953k
NHGRI NIH HHS U01 HG011723NIDDK NIH HHS K23 DK131345NIDDK NIH HHS UM1 DK126185Wellcome Trust
6 · The paper itself

Abstract

We meta-analyzed array data imputed with the TOPMed reference panel and whole-genome sequence (WGS) datasets and performed the largest, rare variant (minor allele frequency as low as 5×10

Identifiers

PMID37808701
PMCPMC10557807
OpenAlexW4387188664

What Socratic 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 Socratic graph.