Evidence map›Paper›PMID 34425882›Full record

ArticleGenome biology2021

INFIMA leverages multi-omics model organism data to identify effector genes of human GWAS variants.

Chenyang Dong, Shane P Simonett, Sunyoung Shin, Donnie S Stapleton, Kathryn L Schueler, Gary A Churchill, Leina Lu, Xiaoxiao Liu, Fulai Jin, Yan Li and 3 more

Open access · goldAbstract read
In one paragraph

Article in Genome biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

7 citing papers in PubMed, 7 citations in OpenAlex.

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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

13 authors at 4 institutions in 1 country.

Chenyang DongDepartment of Statistics, University of Wisconsin-Madison, Madison, WI, USA.
Shane P SimonettDepartment of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
Sunyoung ShinDepartment of Mathematical Sciences, University of Texas at Dallas, Richardson, TX, USA.
Donnie S StapletonDepartment of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
Kathryn L SchuelerDepartment of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
Gary A ChurchillThe Jackson Laboratory, Bar Harbor, ME, USA.
Leina LuCase Western University, Cleveland, OH, USA.
Xiaoxiao LiuCase Western University, Cleveland, OH, USA.
Fulai JinCase Western University, Cleveland, OH, USA.
Yan LiCase Western University, Cleveland, OH, USA.
Alan D AttieDepartment of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
Mark P KellerDepartment of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA. mark.keller@wisc.edu.
Sündüz KeleşDepartment of Statistics, University of Wisconsin-Madison, Madison, WI, USA. keles@stat.wisc.edu.ORCID 0000-0001-9048-0922
University of Wisconsin–Madison · USCase Western Reserve University · USJackson Laboratory · USThe University of Texas at Dallas · US

Funding

TrainingU54AI117924 · NIAID · UNIVERSITY OF WISCONSIN-MADISON · PI CRAVEN, MARK W. · 2014 to 2018
$11.3M
The Diversity Outbred Diabetes ProjectR01DK101573 · NIDDK · UNIVERSITY OF WISCONSIN-MADISON · PI Alan D Attie · 2014 to 2026
$5.3M
Robust mapping of chromatin loops from sparse or single cell Hi-C data with DeepLoopR01HG009658 · NHGRI · CASE WESTERN RESERVE UNIVERSITY · PI Fulai Jin · 2017 to 2026
$5.1M
Statistical Methods for the Analysis of ChlP-chip DataR01HG003747 · NHGRI · UNIVERSITY OF WISCONSIN-MADISON · PI KELES, SUNDUZ · 2007 to 2024
$4.8M
Elucidating human beta cell transcriptional regulome with low-input genomic technologiesR01DK113185 · NIDDK · CASE WESTERN RESERVE UNIVERSITY · PI Yan Li · 2018 to 2026
$4.0M
STAG2 mutations and 3D genome organization in glioblastoma multiformeR01CA267872 · NCI · GEORGETOWN UNIVERSITY · PI Fulai Jin, TODD A WALDMAN · 2022 to 2026
$2.7M
Understanding the variation of induced β-cell differentiation.R01DK131437 · NIDDK · CASE WESTERN RESERVE UNIVERSITY · PI JIN, FULAI, LI, YAN · 2022 to 2025
$2.4M
Statistical Methods For Annotating Repetitive Genomic Regions Through ENCODE-deriU01HG007019 · NHGRI · UNIVERSITY OF WISCONSIN-MADISON · PI BRESNICK, EMERY H, DEWEY, COLIN NOEL · 2012 to 2015
$1.5M
Functionally relevant mapping of human GWAS SNPs on model organismsR21HG011371 · NHGRI · UNIVERSITY OF WISCONSIN-MADISON · PI KELES, SUNDUZ · 2020 to 2020
$400k
NCI NIH HHS R01 CA267872NHGRI NIH HHS R01 HG003747NHGRI NIH HHS R01 HG009658NHGRI NIH HHS R21 HG011371NHGRI NIH HHS U01 HG007019NIAID NIH HHS U54 AI117924NIDDK NIH HHS R01 DK101573NIDDK NIH HHS R01 DK113185NIDDK NIH HHS R01 DK131437
6 · The paper itself

Abstract

Genome-wide association studies reveal many non-coding variants associated with complex traits. However, model organism studies largely remain as an untapped resource for unveiling the effector genes of non-coding variants. We develop INFIMA, Integrative Fine-Mapping, to pinpoint causal SNPs for diversity outbred (DO) mice eQTL by integrating founder mice multi-omics data including ATAC-seq, RNA-seq, footprinting, and in silico mutation analysis. We demonstrate INFIMA's superior performance compared to alternatives with human and mouse chromatin conformation capture datasets. We apply INFIMA to identify novel effector genes for GWAS variants associated with diabetes. The results of the application are available at http://www.statlab.wisc.edu/shiny/INFIMA/ .

Indexed as

Genetic VariationGenome-Wide Association StudyPhysical Chromosome MappingAnimalsBase SequenceChromatinChromatin Immunoprecipitation SequencingComputer SimulationGenetic Predisposition to DiseaseGenomicsHumansMicePolymorphism, Single NucleotideQuantitative Trait LociRNA-SeqStatistics as TopicChromatinATAC-seqDiversity outbred mouseFine-mappingGenerative probabilistic modelingGenome-wide association studiesMolecular quantitative trait lociPancreatic isletsTransfer learning

Identifiers

PMID34425882
PMCPMC8381555
OpenAlexW3195995877

What OpenQuestion holds

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Registered trials

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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.