Article

Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation

2024-12-18

Abstract excerpt

Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which capture fewer than half of the SVs present in any one individual. Long-read sequencing (LRS) enhances our ability to detect disease-associated and functionally relevant structural variants (SVs); however,...

Topics

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

Identifiers and source

Literature Corpus work: c498ce6d-af07-5a82-97c6-10d5fe2f1d0b
DOI: 10.1101/2024.12.16.628723

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylationDOI 10.1101/2024.12.16.628723Read

The impact of genomic structural variation on the transcriptome, chromatin, and proteome in the human brainSemantic proximity Read

Long-read genome sequencing and multi-omics in aging and neurodegenerationSemantic proximity Read

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylationSemantic proximity Read

TARGETED, HIGH-RESOLUTION RNA SEQUENCING OF NON-CODING GENOMIC REGIONS ASSOCIATED WITH NEUROPSYCHIATRIC FUNCTIONSSemantic proximity Read

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variationSemantic proximity Read

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.Semantic proximity Read

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

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseSemantic proximity Read

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.Semantic proximity Read

Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brainSemantic proximity Read

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variantsSemantic proximity Read

Whole genome methylation sequencing in blood identifies extensive differential DNA methylation in late‐onset dementia due to Alzheimer's diseaseSemantic proximity Read