Article

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

2024-05-04

Abstract excerpt

Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilised 10-fold coverage HiFi long-read sequencing (LRS) for detecting causative structural variants (SVs), single nucleotide variants (SNVs), insertion-deletions (InDels), and short tandem repeat (STR) expansions in extensively studied RD families without...

Topics

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

Identifiers and source

Literature Corpus work: e9d11b13-cc18-5b79-aa57-6503194e1f0f
DOI: 10.1101/2024.05.03.24305331

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingDOI 10.1101/2024.05.03.24305331Read

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Semantic proximity Read

Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSemantic proximity Read

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome projectSemantic proximity Read

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

IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesSemantic proximity Read

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

Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisSemantic proximity Read

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesSemantic proximity Read

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesSemantic proximity Read

Comprehensive de novo mutation discovery with HiFi long-read sequencing.Semantic proximity Read

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesSemantic proximity Read

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.Semantic proximity Read