Article

Clinical long-read genome sequencing for rare disease diagnostics

2026-01-18

Abstract excerpt

<h4>Background</h4> Diagnostic evaluation of rare genetic disorders continues to rely on multiple test modalities, despite the increasing use of short-read exome or genome sequencing as first-tier tests. Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been establis...

Topics

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

Identifiers and source

Literature Corpus work: 19d6e309-25d7-59a4-83d9-71b62dccf9d8
DOI: 10.64898/2026.01.13.26343759

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical long-read genome sequencing for rare disease diagnosticsDOI 10.64898/2026.01.13.26343759Read

Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease DiagnosisSemantic proximity Read

Genome sequencing as a generic diagnostic strategy for rare diseaseSemantic proximity Read

Short-Read Genome Sequencing at Population Scale: Diagnostic Insights From 2,317 PatientsSemantic proximity Read

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disordersSemantic proximity Read

Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic testSemantic proximity Read

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseasesSemantic proximity Read

The impact of clinical genome sequencing in a global population of patients with suspected rare genetic diseaseSemantic proximity Read

Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseasesSemantic proximity Read

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.Semantic proximity Read

Whole Genome Sequencing for the Diagnosis of Rare DisordersSemantic proximity Read

Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost projectSemantic proximity Read

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