Evidence map›Paper›PMID 36289406›Full record

ReviewNature protocols2023

Annotating genetic variants to target genes using H-MAGMA.

Nancy Y A Sey, Brandon M Pratt, Hyejung Won

Abstract readReview
In one paragraph

Review in Nature protocols, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
–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

17 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  9. Update on the genetics of allergic diseases.The Journal of allergy and clinical immunology · 2025
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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

3 authors.

Nancy Y A SeyUNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA.
Brandon M PrattDepartment of Pharmacology, University of North Carolina, Chapel Hill, NC, USA.ORCID 0000-0002-1509-7509
Hyejung WonUNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA. hyejung_won@med.unc.edu.ORCID 0000-0003-3651-0566

Funding

Predoctoral Training in the Pharmacological SciencesT32GM135095 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Joseph Mauro Calabrese, Michael James Emanuele · 2020 to 2026
$3.6M
Deciphering Cell-type Specific Regulatory Landscape in Human BrainDP2MH122403 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WON, HYEJUNG · 2019 to 2019
$2.3M
Discovery and validation of genetic variation impacting the gene regulatory landscape during human cortical developmentU01MH122509 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI STEIN, JASON LOUIS, WON, HYEJUNG · 2021 to 2022
$1.2M
Connecting gene regulatory mechanisms in human brain to psychiatric illnessR00MH113823 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WON, HYEJUNG · 2018 to 2020
$719k
Using H-MAGMA to decipher neurobiological bases of smoking and alcohol use traitsR21DA051921 · NIDA · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WON, HYEJUNG · 2020 to 2021
$453k
Howard Hughes Medical Institute James H. Gilliam FellowshipsNIDA NIH HHS R21 DA051921NIGMS NIH HHS T32 GM135095NIMH NIH HHS DP2 MH122403NIMH NIH HHS R00 MH113823NIMH NIH HHS U01 MH122509U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) 5T32GM135095U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) DP2MH122403U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R00MH113823U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) U01MH122509U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA) R21DA051921
6 · The paper itself

Abstract

An outstanding goal in modern genomics is to systematically predict the functional outcome of noncoding variation associated with complex traits. To address this, we developed Hi-C-coupled multi-marker analysis of genomic annotation (H-MAGMA), which builds on traditional MAGMA-a gene-based analysis tool that assigns variants to their target genes-by incorporating 3D chromatin configuration in assigning variants to their putative target genes. Applying this approach, we identified key biological pathways implicated in a wide range of brain disorders and showed its utility in complementing other functional genomic resources such as expression quantitative trait loci-based variant annotation. Here, we provide a detailed protocol for generating the H-MAGMA variant-gene annotation file by using chromatin interaction data from the adult human brain. In addition, we provide an example of how H-MAGMA is run by using genome-wide association study summary statistics of Parkinson's disease. Lastly, we generated variant-gene annotation files for 28 tissues and cell types, with the hope of contributing a resource for researchers studying a broad set of complex genetic disorders. H-MAGMA can be performed in <2 h for any cell type in which Hi-C data are available.

Indexed as

Genome-Wide Association StudyGenomicsBrainChromatinChromosomesHumansPolymorphism, Single NucleotideChromatin

Identifiers

PMID36289406
PMCPMC10026181

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.