Evidence map›Paper›PMID 29507298›Full record

ArticleTranslational psychiatry2018

Brain-specific functional relationship networks inform autism spectrum disorder gene prediction.

Marlena Duda, Hongjiu Zhang, Hong-Dong Li, Dennis P Wall, Margit Burmeister, Yuanfang Guan

Open access · goldAbstract read
In one paragraph

Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
5.0field-weighted citation impact, top 4% 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

29 citing papers in PubMed, 67 citations in OpenAlex.

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  14. Comprehensive Survey of Recent Drug Discovery Using Deep Learning.International journal of molecular sciences · 2021
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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

6 authors at 3 institutions in 2 countries.

Marlena DudaDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0003-2369-2225
Hongjiu ZhangDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Hong-Dong LiDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Dennis P WallDepartment of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-7889-9146
Margit BurmeisterDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Yuanfang GuanDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA. gyuanfan@umich.edu.
University of Michigan · USCentral South University · CNStanford University · US

Funding

University of Michigan O'Brien Kidney Translational Core CenterP30DK081943 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BROSIUS, FRANK C · 2008 to 2022
$12.9M
Michigan Alzheimer's Disease Core CenterP30AG053760 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ALBIN, ROGER L · 2016 to 2020
$10.1M
Mechanisms of Polyglutamine NeurodegenerationR01NS038712 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PAULSON, HENRY L · 2000 to 2019
$8.1M
Training Program in BioinformaticsT32GM070449 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ATHEY, BRIAN DAVID, BURMEISTER, MARGIT · 2005 to 2020
$3.6M
Integrating context-specific networks to predict ataxia genesR21NS082212 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BURMEISTER, MARGIT, GUAN, YUANFANG · 2013 to 2014
$426k
NIA NIH HHS P30 AG053760NIDDK NIH HHS P30 DK081943NIGMS NIH HHS T32 GM070449NINDS NIH HHS R01 NS038712NINDS NIH HHS R21 NS082212
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a neuropsychiatric disorder with strong evidence of genetic contribution, and increased research efforts have resulted in an ever-growing list of ASD candidate genes. However, only a fraction of the hundreds of nominated ASD-related genes have identified de novo or transmitted loss of function (LOF) mutations that can be directly attributed to the disorder. For this reason, a means of prioritizing candidate genes for ASD would help filter out false-positive results and allow researchers to focus on genes that are more likely to be causative. Here we constructed a machine learning model by leveraging a brain-specific functional relationship network (FRN) of genes to produce a genome-wide ranking of ASD risk genes. We rigorously validated our gene ranking using results from two independent sequencing experiments, together representing over 5000 simplex and multiplex ASD families. Finally, through functional enrichment analysis on our highly prioritized candidate gene network, we identified a small number of pathways that are key in early neural development, providing further support for their potential role in ASD.

Indexed as

Databases, GeneticMachine LearningModels, GeneticAnimalsAutism Spectrum DisorderGenetic Predisposition to DiseaseGenomeGenomicsHumansMicePhenotypeRats

Identifiers

PMID29507298
PMCPMC5838237
OpenAlexW2789285566

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.