Article

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

2024-12-26

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants. <h4>Methods</h4> Using dedicated pipelines to addre...

Topics

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

Identifiers and source

Literature Corpus work: aa789032-8e5e-5c0f-9ed8-0d7a2fdfa45b
DOI: 10.1101/2024.12.22.24319370

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesDOI 10.1101/2024.12.22.24319370Read

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

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

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

Mitochondrial DNA variation across 56,434 individuals in gnomADSemantic proximity Read

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

Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Semantic proximity Read

Mitochondrial Diseases: A Diagnostic Revolution.Semantic proximity Read

A Bioinformatics Pipeline for Estimating Mitochondria DNA Copy Number and Heteroplasmy Levels from Whole Genome Sequencing DataSemantic proximity Read

A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humansSemantic proximity Read

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

Genetic diagnosis of Mendelian disorders via RNA sequencingSemantic proximity Read

A full-length mtDNA dataset for studying genetic variations across generations and complex family structures.Semantic proximity Read