Evidence map›Paper›PMID 40778144›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Pangenome discovery of missing autism variants.

Yang Sui, Jiadong Lin, Michelle D Noyes, Youngjun Kwon, Isaac Wong, Nidhi Koundinya, William T Harvey, Mei Wu, Kendra Hoekzema, Katherine M Munson and 19 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

29 authors.

Yang SuiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Jiadong LinDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Michelle D NoyesDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Youngjun KwonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Isaac WongDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Nidhi KoundinyaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Mei WuDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Gage H GarciaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Jordan KnuthDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Julie WertzDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Tianyun WangDepartment of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.ORCID 0000-0002-5179-087X
Kelsey HennickDepartment of Neurological Surgery, University of California, San Francisco, CA 94143, USA.
Druha KarunakaranCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY 10016, USA.
Rafael A Polo PrietoDepartment of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Rebecca Meyer-SchumanDepartment of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Fisher CherryDepartment of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Davut PehlivanDepartment of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Bernhard SuterTexas Children's Hospital, Houston, TX 77030, USA.
Jonas A GustafsonDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.ORCID 0000-0002-5748-905X
Danny E MillerDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.ORCID 0000-0001-6096-8601
Human Pangenome Reference Consortium (HPRC)
Hanna Berk-RauchCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY 10016, USA.
Tomasz J NowakowskiDepartment of Neurological Surgery, University of California, San Francisco, CA 94143, USA.
Aravinda ChakravartiCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY 10016, USA.
Huda Y ZoghbiDepartment of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8246-4014

Funding

Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2M
MOLECULAR PATHOGENESIS STUDIES OF RETT SYNDROMER01NS057819 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI ZOGHBI, HUDA Y · 2006 to 2025
$7.5M
Long-read DNA and RNA sequencing to identify disease-causing genetic variation and streamline testingDP5OD033357 · OD · UNIVERSITY OF WASHINGTON · PI MILLER, DANNY ERWIN · 2022 to 2025
$1.9M
Defining critical MECP2 cis-regulatory elements towards identifying genetic candidates for male-biased autismF32HD116501 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI SCHUMAN, REBECCA MEYER · 2024 to 2025
$152k
NICHD NIH HHS F32 HD116501NIH HHS DP5 OD033357NIMH NIH HHS R01 MH101221NINDS NIH HHS R01 NS057819
6 · The paper itself

Abstract

Autism spectrum disorders (ASDs) are genetically and phenotypically heterogeneous and the majority of cases still remain genetically unresolved. To better understand large-effect pathogenic variation, we generated long-read sequencing data to construct phased and near-complete genome assemblies (average contig N50=43 Mbp, QV=56) for 189 individuals from 51 families with unsolved cases of autism. We applied read- and assembly-based strategies to facilitate comprehensive characterization of

Indexed as

autismlong-read sequencingpangenomespathogenic variantsrare structural variants

Identifiers

PMID40778144
PMCPMC12330438

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.