Evidence map›Paper›PMID 32978376›Full record

ArticleNature communications2020

Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism.

Gokul Ramaswami, Hyejung Won, Michael J Gandal, Jillian Haney, Jerry C Wang, Chloe C Y Wong, Wenjie Sun, Shyam Prabhakar, Jonathan Mill, Daniel H Geschwind

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06662591 (A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder), which is not on this map. Cited by 73 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
73citing papers in PubMed, 1 pooled it
8.2field-weighted citation impact, top 2% 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.

NCT06662591 not yet recruitingnot on this mapstarted 2025, after this paper: background citation

A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder

Typeobservational_patient_registrySponsorResearch and Treatment Society of Genetic DisordersRan2025 to 2028Enrolled3,000ConditionsAutism Spectrum Disorder (ASD)
3 · Its place in the literature

Who cites it

73 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Transcriptomic Convergence in Autism Spectrum Disorder: Synaptic, Immune-Glial and RNA-Regulatory Axes in the Human Cerebral Cortex.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026
    Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Molecular dynamics of Brodmann Area 22 in development and autism.bioRxiv : the preprint server for biology · 2026
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Common and rare variant genetic contributions in African Americans with autism.medRxiv : the preprint server for health sciences · 2025
    Article
  20. Article

13 more citing papers are in PubMed but not listed here.

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

10 authors at 5 institutions in 3 countries.

Gokul RamaswamiProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Hyejung WonProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 90095, USA.ORCID http://orcid.org/0000-0003-3651-0566
Michael J GandalProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 90095, USA.ORCID http://orcid.org/0000-0001-5800-5128
Jillian HaneyProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Jerry C WangProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 90095, USA.ORCID http://orcid.org/0000-0002-8535-8460
Chloe C Y WongInstitute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, London, SE5 8AB, UK.
Wenjie SunComputational and Systems Biology, Genome Institute of Singapore, Singapore, 138672, Singapore.
Shyam PrabhakarComputational and Systems Biology, Genome Institute of Singapore, Singapore, 138672, Singapore.ORCID http://orcid.org/0000-0002-6409-0661
Jonathan MillUniversity of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.ORCID http://orcid.org/0000-0003-1115-3224
Daniel H GeschwindProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 90095, USA. dhg@mednet.ucla.edu.ORCID http://orcid.org/0000-0003-2896-3450
University of California, Los Angeles · USGenome Institute of Singapore · SGKing's College London · GBUniversity of Exeter · GBUniversity of North Carolina at Chapel Hill · US

Funding

1/2 Cross modal integration of molecular and physiological networks in ASDU01MH115746 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H, MEHTA, MAYANK R · 2017 to 2021
$5.3M
Isoform-level probabilistic transcriptome-wide association to undercover neurogenetic mechanisms underlying complex psychiatric traitsR01MH121521 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GANDAL, MICHAEL · 2020 to 2024
$3.4M
Population-level and mechanistic dissection of 17q21 structural variant association with psychiatric traitsR01MH123922 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GANDAL, MICHAEL · 2020 to 2024
$3.1M
Epigenetic and Transcriptional Dysregulation in Autism Spectrum DisorderR01MH094714 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2011 to 2015
$2.8M
2/3 Integrative Genomic Analysis of Human Brain Development and AutismR01MH110927 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2016 to 2019
$2.7M
1/3 Building integrative CNS networks for genomic analysis of autismR01MH109912 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2016 to 2020
$2.6M
Deciphering Cell-type Specific Regulatory Landscape in Human BrainDP2MH122403 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WON, HYEJUNG · 2019 to 2019
$2.3M
Connecting gene regulatory mechanisms in human brain to psychiatric illnessR00MH113823 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WON, HYEJUNG · 2018 to 2020
$719k
Systems level integration of genetic, transcriptomic, and epigenomic data in autismF32MH114620 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI RAMASWAMI, GOKUL · 2018 to 2019
$111k
Medical Research Council K013807Medical Research Council R005176NIMH NIH HHS DP2 MH122403NIMH NIH HHS F32 MH114620NIMH NIH HHS R00 MH113823NIMH NIH HHS R01 MH094714NIMH NIH HHS R01 MH109912NIMH NIH HHS R01 MH110927NIMH NIH HHS R01 MH121521NIMH NIH HHS R01 MH123922NIMH NIH HHS U01 MH115746
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown patterns of molecular convergence in post-mortem brain tissue from autistic subjects. Here, we integrate genome-wide measures of mRNA expression, miRNA expression, DNA methylation, and histone acetylation from ASD and control brains to identify a convergent molecular subtype of ASD with shared dysregulation across both the epigenome and transcriptome. Focusing on this convergent subtype, we substantially expand the repertoire of differentially expressed genes in ASD and identify a component of upregulated immune processes that are associated with hypomethylation. We utilize eQTL and chromosome conformation datasets to link differentially acetylated regions with their cognate genes and identify an enrichment of ASD genetic risk variants in hyperacetylated noncoding regulatory regions linked to neuronal genes. These findings help elucidate how diverse genetic risk factors converge onto specific molecular processes in ASD.

Indexed as

TranscriptomeAutism Spectrum DisorderBrainDNA MethylationEpigenomicsGene Expression RegulationGene Regulatory NetworksGenomicsHistonesHumansMicroRNAsRNA, MessengerHistonesMicroRNAsRNA, Messenger

Identifiers

PMID32978376
PMCPMC7519165
OpenAlexW3088092592

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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.