Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk.

Cell genomics - 14 Feb 2024

Nakamura Takumi, Ueda Junko, Mizuno Shota, Honda Kurara, Kazuno An-A, Yamamoto Hirona, Hara Tomonori, Takata Atsushi

Abstract excerpt

Whole-genome sequencing (WGS) studies of autism spectrum disorder (ASD) have demonstrated the roles of rare promoter de novo variants (DNVs). However, most promoter DNVs in ASD are not located immediately upstream of known ASD genes. In this study analyzing WGS data of 5,044 ASD probands, 4,095 unaffected siblings, and their parents, we show that promoter DNVs within topologically associating domains (TADs)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autism Spectrum Disorder
Share to Gene Expression Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Induced Pluripotent Stem Cells

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 38280381
DOI: 10.1016/j.xgen.2024.100488
PMCID: PMC10879036

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk.PMID 38280381Read ↗

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.Semantic proximity Read ↗

Deciphering the Non-Coding Genome in Autism Spectrum Disorders (ASD): A Study of De Novo and Rare Inherited Variants through Targeted Sequencing in Regulatory RegionsSemantic proximity Read ↗

Non-coding Regulatory Variants in ASD (Autism Spectrum Disorders) Disrupt CTCF Domains and Shape Cell-Type–Specific Neurodevelopmental Landscapes Revealed by Single-Cell Analyses and Cortical OrganoidsSemantic proximity Read ↗

Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays.Semantic proximity Read ↗

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.Semantic proximity Read ↗

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.Semantic proximity Read ↗

Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder.Semantic proximity Read ↗

Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.Semantic proximity Read ↗

Noncoding <i>de novo</i> mutations contribute to autism spectrum disorder via chromatin interactionsSemantic proximity Read ↗

Spatio-Temporal Roles of ASD-Associated Variants in Human Brain Development.Semantic proximity Read ↗

Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data.Semantic proximity Read ↗

Decomposing the genetic risk of autism spectrum disorder into discrete molecular subtypes underlie clinical heterogeneity based on transcriptome profile.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.