Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling

26 Jan 2026

Abstract excerpt

Although next-generation sequencing has emerged as a powerful tool for diagnosing rare diseases (RD), many cases of inherited metabolic diseases (IMD) remain unsolved, hindering the diagnosis, clinical and therapeutic management of the patients. The primary aim of this study is to address the most elusive cases by applying long-read sequencing (LRS) targeted to the gene of interest on seven patients (FARS2, GYS2,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genomics and Rare Diseases
Share to Lysosomal Storage Disorders Research
Share to Metabolism and Genetic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 41588148
DOI: 10.1038/s41431-025-01995-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profilingPMID 41588148Read ↗

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosisSemantic proximity Read ↗

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

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosisSemantic proximity Read ↗

Next generation sequencing for molecular diagnosis of neuromuscular diseasesSemantic proximity Read ↗

Improving molecular diagnosis of fabry disease: functional validation of novel splicing variants in GLASemantic proximity Read ↗

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Semantic proximity Read ↗

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

RNA sequencing resolves cryptic pathogenic variants in mitochondrial diseaseSemantic proximity Read ↗

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.Semantic proximity Read ↗

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patientsSemantic proximity Read ↗

Inherited Metabolic Disorder-Related Genes and Mutation Spectrum in Iranians: An 11-Year Analysis Using Next-Generation Sequencing and Sanger SequencingSemantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.