Article

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism

2025-07-23

Abstract excerpt

Long read whole genome sequencing (LR WGS) technologies enhance the discovery of structural variants (SVs) and tandem repeats (TRs). Application of LR WGS has potential to identify novel risk factors that contribute to autism spectrum disorder (ASD). We performed LR WGS on 243 individuals from 63 ASD families and generated an integrated call set combining long and short read data. LR WGS increased detection of gen...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 81dae188-a6cb-5957-ae33-a9bf4fc6dae4
DOI: 10.1101/2025.07.20.25331880

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in AutismDOI 10.1101/2025.07.20.25331880Read

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

Pangenome discovery of missing autism variantsSemantic proximity Read

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

Genome-wide patterns of <i>de novo</i> tandem repeat mutations and their contribution to autism spectrum disordersSemantic proximity Read

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.Semantic proximity Read

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.Semantic proximity Read

Closing the diagnostic gap in developmental disorders through comprehensive long-read sequencingSemantic proximity Read

LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genesSemantic proximity Read

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

Frequency and complexity of de novo structural mutation in autismSemantic proximity Read

Illuminating hidden genetic architecture in autism.Semantic proximity Read

Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR TestingSemantic proximity Read