Article

A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans

2019-10-08

Abstract excerpt

<h4>Summary</h4> High quality population allele frequencies of DNA variants can be used to discover new biology, and study rare disorders. Here, we created a public catalog of mitochondrial DNA variants based on a population of 195,983 individuals. We focused on 3 criteria: (i) the population is not enriched for mitochondrial disorders, or other clinical phenotypes, (ii) all genomes are sequenced and analyzed in...

Topics

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

Identifiers and source

Literature Corpus work: f0dcff8c-cbe8-578a-94fd-3574a837a051
DOI: 10.1101/798264

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humansDOI 10.1101/798264Read

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

Searching the co-occurrence of pathogenic mutations for Leber's hereditary optic neuropathy and hearing loss in more than 26,000 whole mitochondrial genomes.Semantic proximity Read

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

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

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

High-throughput sequencing in mitochondrial DNA research.Semantic proximity Read

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

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

Spectrum of rare and common mitochondrial DNA variations from 1029 whole genomes of self-declared healthy individuals from India.Semantic proximity Read

Whole genome sequencing and bioinformatics analysis of two Egyptian genomes.Semantic proximity Read

Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.Semantic proximity Read