Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting

Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting

Given the enhanced discriminatory power of the mitochondrial DNA (mtDNA) genome (mitogenome) over the commonly sequenced control region (CR) portion, the scientific merit of mitogenome sequencing is generally accepted. However, many laboratories remain beholden to CR sequencing due to privacy polici...

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Bibliographic Details
Main Authors: Charla Marshall, Kimberly Sturk-Andreaggi, Joseph D. Ring, Arne Dür, Walther Parson
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Genes
Subjects:
mitochondrial genome
mitochondrial DNA
coding region
variant filtering
pathogenic variants
haplotype
Online Access:https://www.mdpi.com/2073-4425/11/10/1140

Internet

https://www.mdpi.com/2073-4425/11/10/1140

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