Evidence map›Paper›PMID 36368308›Full record

ArticleCell2022

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Brett Trost, Bhooma Thiruvahindrapuram, Ada J S Chan, Worrawat Engchuan, Edward J Higginbotham, Jennifer L Howe, Livia O Loureiro, Miriam S Reuter, Delnaz Roshandel, Joe Whitney and 94 more

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Cell, 2022. 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 182 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
182citing papers in PubMed, 6 pooled it
30.5field-weighted citation impact, top 1% 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

182 citing papers in PubMed, 6 syntheses or guidelines pooled it, 266 citations in OpenAlex.

  1. Pooled it
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  3. Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025
    Pooled it
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  7. Trial
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  9. Big data and psychiatry: advances, constraints and future directions.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026
    Article
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122 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

104 authors at 18 institutions in 4 countries.

Brett TrostThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Ada J S ChanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Worrawat EngchuanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Edward J HigginbothamThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jennifer L HoweThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Livia O LoureiroThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Miriam S ReuterThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; CGEn, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Delnaz RoshandelGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Joe WhitneyThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Mehdi ZarreiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Matthew BookmanVerily Life Sciences, South San Francisco, CA 94080, USA.
Cherith SomervilleTed Rogers Centre for Heart Research, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Rulan ShaathThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Mona AbdiDepartment of Human Genetics, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Elbay AliyevDepartment of Human Genetics, Sidra Medicine, Doha, Qatar.
Rohan V PatelThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Thomas NalpathamkalamThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Giovanna PellecchiaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Omar HamdanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Gaganjot KaurThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Zhuozhi WangThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jeffrey R MacDonaldThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
John WeiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Wilson W L SungThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Sylvia LamoureuxThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Ny HoangGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Thanuja SelvanayagamGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Nicole DeflauxVerily Life Sciences, South San Francisco, CA 94080, USA.
Melissa GengGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
Siavash GhaffariThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
John BatesVerily Life Sciences, South San Francisco, CA 94080, USA.
Edwin J YoungGenome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Qiliang DingTed Rogers Centre for Heart Research, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Carole ShumThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Lia D'AbateThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Clarrisa A BradleyGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Neurosciences and Mental Health, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Annabel RutherfordThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
Vernie AgudaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Beverly AprestoThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Nan ChenThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Sachin DesaiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Xiaoyan DuThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Matthew L Y FongThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Sanjeev PullenayegumThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Kozue SamlerThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Ting WangThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Karen HoThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Tara PatonThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Sergio L PereiraThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jo-Anne HerbrickThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Richard F WintleThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jonathan FuerthDNAstack, Toronto, ON M5H 1T1, Canada.
Juti NoppornpitakDNAstack, Toronto, ON M5H 1T1, Canada.
Heather WardDNAstack, Toronto, ON M5H 1T1, Canada.
Patrick MageeDNAstack, Toronto, ON M5H 1T1, Canada.
Ayman Al BazDNAstack, Toronto, ON M5H 1T1, Canada.
Usanthan KajendirarajahDNAstack, Toronto, ON M5H 1T1, Canada.
Sharvari KapadiaDNAstack, Toronto, ON M5H 1T1, Canada.
Jim VlasblomDNAstack, Toronto, ON M5H 1T1, Canada.
Monica ValluriDNAstack, Toronto, ON M5H 1T1, Canada.
Joseph GreenDNAstack, Toronto, ON M5H 1T1, Canada.
Vicki SeiferAutism Speaks, Princeton, NJ 08540, USA.
Morgan QuirbachAutism Speaks, Princeton, NJ 08540, USA.
Olivia RennieThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Elizabeth KelleyDepartment of Psychology, Queen's University, Kingston, ON K7L 3N6, Canada; Department of Psychiatry, Queen's University, Kingston, ON K7L 7X3, Canada.
Nina MasjediSemel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024, USA.
Catherine LordSemel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024, USA.
Michael J SzegoDepartment of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Family and Community Medicine, University of Toronto, Toronto, ON M5G 1V7, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada.
Ma'n H ZawatiDepartment of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.
Michael LangDepartment of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.
Lisa J StrugGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Statistical Sciences, University of Toronto, Toronto, ON M5S 3G3, Canada.
Christian R MarshallGenome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada.
Gregory CostainGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Kristina CalliDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.
Alana IaboniHolland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada.
Afiqah YusufMontreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada.
Patricia AmbrozewiczAutism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Psychology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Louise GallagherDepartment of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 2, Ireland; Department of Psychiatry, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Child, Youth and Family Services, The Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.
David G AmaralMIND Institute, University of California, Davis, Sacramento, CA 95817, USA; Department of Psychiatry and Behavioral Sciences, University of California, Davis, Sacramento, CA 95817, USA.
Jessica BrianDepartment of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada.
Mayada ElsabbaghMontreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada.
Stelios GeorgiadesDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON L8N 3K7, Canada.
Daniel S MessingerDepartment of Psychology, University of Miami, Miami, FL 33124, USA.
Sally OzonoffMIND Institute, University of California, Davis, Sacramento, CA 95817, USA; Department of Psychiatry and Behavioral Sciences, University of California, Davis, Sacramento, CA 95817, USA.
Jonathan SebatDepartment of Psychiatry and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Calvin SjaardaDepartment of Psychiatry, Queen's University, Kingston, ON K7L 7X3, Canada; Queen's Genomics Lab at Ongwanada, Queen's University, Kingston, ON K7M 8A6, Canada.
Isabel M SmithDepartment of Pediatrics, Dalhousie University, Halifax, NS B3H 4R2, Canada; IWK Health Centre, Halifax, NS B3K 6R8, Canada.
Peter SzatmariDepartment of Psychiatry, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada; Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada.
Lonnie ZwaigenbaumDepartment of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada.
Azadeh KushkiHolland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada; Institute of Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada.
Thomas W FrazierAutism Speaks, Princeton, NJ 08540, USA; Department of Psychology, John Carroll University, Cleveland, OH 44118, USA.
Jacob A S VorstmanGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.
Khalid A FakhroDepartment of Human Genetics, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar; Department of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar.
Bridget A FernandezDepartment of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA; Keck School of Medicine of USC, University of Southern California, Los Angeles, CA 90033, USA.
M E Suzanne LewisDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.
Rosanna WeksbergDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Marc FiumeDNAstack, Toronto, ON M5H 1T1, Canada.
Ryan K C YuenGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
Evdokia AnagnostouDepartment of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada.
Neal SondheimerGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
David GlazerVerily Life Sciences, South San Francisco, CA 94080, USA.
Dean M HartleyAutism Speaks, Princeton, NJ 08540, USA.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, Toronto, ON M5G 0A4, Canada. Electronic address: stephen.scherer@sickkids.ca.
Hospital for Sick Children · CAUniversity of Toronto · CAAutism Speaks · USCentre for Addiction and Mental Health · CAHamad bin Khalifa University · QAMcGill University · CAMontreal Neurological Institute and Hospital · CAQueen's University · CAUniversity of British Columbia · CAUniversity of California, Davis · USUniversity of California, Los Angeles · USDalhousie University · CAHolland Bloorview Kids Rehabilitation Hospital · CAMcMaster University · CAUniversity of Alberta · CAUniversity of California San Diego · USUniversity of Miami · USUniversity of Southern California · US

Funding

Expanding the accessible genetic architecture of autism by single molecule sequencingR01MH113715 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2017 to 2021
$4.1M
4/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109501 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2016 to 2020
$2.0M
4/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119746 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2019 to 2023
$1.4M
NIMH NIH HHS R01 MH113715NIMH NIH HHS U01 MH109501NIMH NIH HHS U01 MH119746
6 · The paper itself

Abstract

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic.

Indexed as

Autism Spectrum DisorderAutistic DisorderDNA Copy Number VariationsGenetic Predisposition to DiseaseGenomicsHumansautism spectrum disordercopy-number variationneurodevelopmental disordersphenotype measurespolygenic risk scoresrare variantsstructural variationwhole-genome sequencing

Identifiers

PMID36368308
PMCPMC10726699
OpenAlexW4308906825

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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.