Article

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses

2023-11-19

Abstract excerpt

<h4>Purpose</h4> Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular diagnosis. The Australian Genomics Mitochondrial flagship, comprising clinicians, diagnostic, and research scientists, conducted a prospective national study to identify the diagnostic utility of singleton genomic sequencing using blood samples. <h4>...

Topics

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

Identifiers and source

Literature Corpus work: 4224aada-0bbb-5e8a-8735-a805fd1d4188
DOI: 10.1101/2023.11.08.23298009

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial DiagnosesDOI 10.1101/2023.11.08.23298009Read

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnosesSemantic proximity Read

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.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

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

Revisiting mitochondrial diagnostic criteria in the new era of genomics.Semantic proximity Read

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.Semantic proximity Read

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomesSemantic proximity Read

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.Semantic proximity Read

Mitochondrial Diseases: A Diagnostic Revolution.Semantic proximity Read

North and East African mitochondrial genetic variation needs further characterization towards precision medicineSemantic proximity Read

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