Evidence map›Paper›PMID 32522981›Full record

ArticleNature communications2020

mTADA is a framework for identifying risk genes from de novo mutations in multiple traits.

Tan-Hoang Nguyen, Amanda Dobbyn, Ruth C Brown, Brien P Riley, Joseph D Buxbaum, Dalila Pinto, Shaun M Purcell, Patrick F Sullivan, Xin He, Eli A Stahl

Abstract 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. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–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

8 citing papers in PubMed.

  1. Joint analysis ofNAR genomics and bioinformatics · 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

10 authors.

Tan-Hoang NguyenDivision of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. tanhoang.nguyen@vcuhealth.org.ORCID http://orcid.org/0000-0001-6910-7269
Amanda DobbynDivision of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ruth C BrownVirginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA.
Brien P RileyVirginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA.ORCID http://orcid.org/0000-0002-2408-8268
Joseph D BuxbaumSeaver Autism Center, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Dalila PintoSeaver Autism Center, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-8769-0846
Shaun M PurcellSleep Center, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Patrick F SullivanDepartments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA.
Xin HeDepartment of Human Genetics, University of Chicago, Chicago, IL, USA. xinhe@uchicago.edu.ORCID http://orcid.org/0000-0001-9011-5212
Eli A StahlDivision of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. eli.stahl@mssm.edu.ORCID http://orcid.org/0000-0002-1192-0561

Funding

A Large-Scale Schizophrenia Association Study in SwedenR01MH077139 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2018
$9.9M
Population-Based Autism Genetics & Environment StudyR01MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2014 to 2022
$5.2M
Integrative genomics to map risk genes and pathways in autism and epilepsyR01MH110555 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI PINTO, DALILA · 2016 to 2020
$3.9M
Integrative Approaches to Understanding Genetic Basis of Neuropsychiatric DiseasesR01MH110531 · NIMH · UNIVERSITY OF CHICAGO · PI HE, XIN · 2017 to 2022
$3.2M
1/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111661 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2017 to 2021
$2.6M
Integrative modeling of schizophrenia rare variant genetic architectureR01MH105554 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI STAHL, ELI A · 2015 to 2017
$1.4M
Population-Based Autism Genetics & Environment StudyR56MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2012 to 2013
$1.3M
Impact of COVID-19 on the Mental Health of People with Down SyndromeK08HD092610 · NICHD · VIRGINIA COMMONWEALTH UNIVERSITY · PI BROWN, RUTH C · 2018 to 2022
$926k
NICHD NIH HHS K08 HD092610NICHD NIH HHS L30 HD103464NIMH NIH HHS R01 MH077139NIMH NIH HHS R01 MH097849NIMH NIH HHS R01 MH105554NIMH NIH HHS R01 MH110531NIMH NIH HHS R01 MH110555NIMH NIH HHS R56 MH097849NIMH NIH HHS U01 MH111661
6 · The paper itself

Abstract

Joint analysis of multiple traits can result in the identification of associations not found through the analysis of each trait in isolation. Studies of neuropsychiatric disorders and congenital heart disease (CHD) which use de novo mutations (DNMs) from parent-offspring trios have reported multiple putatively causal genes. However, a joint analysis method designed to integrate DNMs from multiple studies has yet to be implemented. We here introduce multiple-trait TADA (mTADA) which jointly analyzes two traits using DNMs from non-overlapping family samples. We first demonstrate that mTADA is able to leverage genetic overlaps to increase the statistical power of risk-gene identification. We then apply mTADA to large datasets of >13,000 trios for five neuropsychiatric disorders and CHD. We report additional risk genes for schizophrenia, epileptic encephalopathies and CHD. We outline some shared and specific biological information of intellectual disability and CHD by conducting systems biology analyses of genes prioritized by mTADA.

Indexed as

Exome SequencingGenetic Predisposition to DiseaseHumansIntellectual DisabilityMutation

Identifiers

PMID32522981
PMCPMC7287090

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.