Evidence map›Paper›PMID 27479844›Full record

ArticleNature neuroscience2016

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder.

Arjun Krishnan, Ran Zhang, Victoria Yao, Chandra L Theesfeld, Aaron K Wong, Alicja Tadych, Natalia Volfovsky, Alan Packer, Alex Lash, Olga G Troyanskaya

Registry-linked trialAbstract read
In one paragraph

Article in Nature neuroscience, 2016. 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 235 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
235citing 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.

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

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

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  20. Antisense oligonucleotide depletion ofmedRxiv : the preprint server for health sciences · 2025
    Article

175 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.

Arjun KrishnanLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey, USA.ORCID 0000-0002-7980-4110
Ran ZhangDepartment of Molecular Biology, Princeton University, Princeton, New Jersey, USA.ORCID 0000-0002-7630-1251
Victoria YaoDepartment of Computer Science, Princeton University, Princeton, New Jersey, USA.ORCID 0000-0002-3201-9983
Chandra L TheesfeldLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey, USA.
Aaron K WongSimons Foundation, New York, New York, USA.ORCID 0000-0002-7294-0646
Alicja TadychLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey, USA.
Natalia VolfovskySimons Foundation, New York, New York, USA.
Alan PackerSimons Foundation, New York, New York, USA.
Alex LashSimons Foundation, New York, New York, USA.
Olga G TroyanskayaLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey, USA.

Funding

Spatial Patterning During DevelopmentP50GM071508 · NIGMS · PRINCETON UNIVERSITY · PI GAMMIE, ALISON E · 2004 to 2013
$30.6M
Quantitavie and Computational Biology Graduate ProgramT32HG003284 · NHGRI · PRINCETON UNIVERSITY · PI Joshua Michael Akey, Stanislav Y. Shvartsman · 2004 to 2026
$9.9M
lntegration and Visualization of Diverse Biological DataR01GM071966 · NIGMS · PRINCETON UNIVERSITY · PI TROYANSKAYA, OLGA G · 2005 to 2022
$6.4M
Context-Sensitive Search of Human Expression CompendiaR01HG005998 · NHGRI · PRINCETON UNIVERSITY · PI TROYANSKAYA, OLGA G · 2011 to 2013
$1.1M
NHGRI NIH HHS R01 HG005998NHGRI NIH HHS T32 HG003284NIGMS NIH HHS P50 GM071508NIGMS NIH HHS R01 GM071966
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Yet, only a small fraction of potentially causal genes-about 65 genes out of an estimated several hundred-are known with strong genetic evidence from sequencing studies. We developed a complementary machine-learning approach based on a human brain-specific gene network to present a genome-wide prediction of autism risk genes, including hundreds of candidates for which there is minimal or no prior genetic evidence. Our approach was validated in a large independent case-control sequencing study. Leveraging these genome-wide predictions and the brain-specific network, we demonstrated that the large set of ASD genes converges on a smaller number of key pathways and developmental stages of the brain. Finally, we identified likely pathogenic genes within frequent autism-associated copy-number variants and proposed genes and pathways that are likely mediators of ASD across multiple copy-number variants. All predictions and functional insights are available at http://asd.princeton.edu.

Indexed as

Autism Spectrum DisorderDNA Copy Number VariationsGene Regulatory NetworksGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single Nucleotide

Identifiers

PMID27479844
PMCPMC5803797

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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.