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

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.

American journal of human genetics - 5 Jun 2025

Ratnaike Thiloka, Paramonov Ida, Olimpio Catarina, Hoischen Alexander, Beltran Sergi, Matalonga Leslie, Horváth Rita

Abstract excerpt

The diagnosis of mitochondrial DNA (mtDNA) diseases remains challenging with next-generation sequencing, where bioinformatic analysis is usually more focused on the nuclear genome. We developed a workflow for the evaluation of mtDNA diseases and applied it in a large European rare disease cohort (Solve-RD). A semi-automated bioinformatic pipeline with MToolBox was used to filter the unsolved Solve-RD cohort for...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Mitochondrial

Share to Heteroplasmy

Share to High-Throughput Nucleotide Sequencing

Share to Mitochondrial Diseases

Share to Rare Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 40306282
DOI: 10.1016/j.ajhg.2025.04.003
PMCID: PMC12256788

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.PMID 40306282Read ↗

Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants.Semantic proximity Read ↗

MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.Semantic proximity Read ↗

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSemantic proximity Read ↗

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.Semantic proximity Read ↗

Mitochondrial pathogenic variants in Whole Exome Sequencing data: from screening to diagnosis and follow-upSemantic proximity Read ↗

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.Semantic proximity Read ↗

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.Semantic proximity Read ↗

<i>mity</i> : A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing dataSemantic proximity Read ↗

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.Semantic proximity Read ↗

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial DiagnosesSemantic proximity Read ↗

mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets.Semantic proximity Read ↗

Mitochondrial Diseases: A Diagnostic Revolution.Semantic proximity Read ↗

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