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

Using the linear references from the pangenome to discover missing autism variants.

Nature communications - 23 Jan 2026

Sui Yang, Lin Jiadong, Noyes Michelle D, Kwon Youngjun, Wong Isaac, Koundinya Nidhi, Harvey William T, Wu Mei, Hoekzema Kendra, Munson Katherine M, Garcia Gage H, Knuth Jordan, Wertz Julie, Wang Tianyun, Hennick Kelsey, Karunakaran Druha, Polo Prieto Rafael A, Meyer-Schuman Rebecca, Cherry Fisher, Pehlivan Davut, Suter Bernhard, Gustafson Jonas A, Miller Danny E, Berk-Rauch Hanna, Nowakowski Tomasz J, Chakravarti Aravinda, Zoghbi Huda Y, Eichler Evan E

Abstract excerpt

To better understand large-effect pathogenic variation associated with autism, we generated long-read sequencing (LRS) 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. We applied read- and assembly-based strategies to facilitate comprehensive characterization of de novo mutations, structural...

Read the complete abstract on PubMed

Topics

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

Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Autistic Disorder

Share to Chromosomes, Human, X

Share to Genetic Variation

Share to Genome, Human

Share to Methyl-CpG-Binding Protein 2

Share to ras GTPase-Activating Proteins

Share to Repressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41577710
DOI: 10.1038/s41467-026-68378-4
PMCID: PMC12909954

Genes

MECP2
SYNGAP1
TBL1XR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Using the linear references from the pangenome to discover missing autism variants.PMID 41577710Read ↗

Pangenome discovery of missing autism variantsSemantic proximity Read ↗

Illuminating hidden genetic architecture in autism.Semantic proximity Read ↗

Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism.Semantic proximity Read ↗

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in AutismSemantic proximity Read ↗

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.Semantic proximity Read ↗

Genomic architecture of autism from comprehensive whole-genome sequence annotation.Semantic proximity Read ↗

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotationSemantic proximity Read ↗

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autismSemantic proximity Read ↗

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionSemantic proximity Read ↗

Familial long-read sequencing increases yield of de novo mutations.Semantic proximity Read ↗

Long-read genome sequencing enhances diagnostics of pediatric neurological disordersSemantic proximity Read ↗

Recent Advances in Understanding the Genetic Architecture of Autism.Semantic proximity Read ↗

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