Article

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

2024-03-26

Abstract excerpt

Rare structural variants (SVs) – insertions, deletions, and complex rearrangements – can cause Mendelian disease, yet they remain difficult to accurately detect and interpret. We sequenced and analyzed Oxford Nanopore long-read genomes of 68 individuals from the Undiagnosed Disease Network (UDN) with no previously identified diagnostic mutations from short-read sequencing. Using our optimized SV detection pipeline...

Topics

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

Identifiers and source

Literature Corpus work: 8fd8bdd8-59cf-5fd6-a101-238017e4265c
DOI: 10.1101/2024.03.22.24304565

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseDOI 10.1101/2024.03.22.24304565Read

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

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

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

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

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSemantic proximity Read

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

HiFi long-read genomes for difficult-to-detect clinically relevant variantsSemantic 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

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingSemantic proximity Read

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.Semantic proximity Read

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.Semantic proximity Read

Targeted long-read sequencing identifies missing disease-causing variation.Semantic proximity Read