Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting
Marshall,C.; Sturk-Andreaggi,K.; Ring,J.D.; Dür,A.; Parson,W.;
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 policies and legal requirements restricting the use of disease information or coding region (codR) information. In this report, we present an approach to obviate the reporting of sensitive codR data in forensic haplotypes.
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