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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7599696/ https://www.ncbi.nlm.nih.gov/pubmed/32998193 http://dx.doi.org/10.3390/genes11101140 |
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author | Marshall, Charla Sturk-Andreaggi, Kimberly Ring, Joseph D. Dür, Arne Parson, Walther |
author_facet | Marshall, Charla Sturk-Andreaggi, Kimberly Ring, Joseph D. Dür, Arne Parson, Walther |
author_sort | Marshall, Charla |
collection | PubMed |
description | 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. We consulted the MitoMap database to identify 92 mtDNA codR variants with confirmed pathogenicity. We determined the frequencies of these pathogenic variants in literature-quality and forensic-quality databases to be very low, at 1.2% and 0.36%, respectively. The observed effect of pathogenic variant filtering on random match statistics in 2488 forensic-quality mitogenome haplotypes from four populations was nil. We propose that pathogenic variant filtering should be incorporated into variant calling algorithms for mitogenome haplotype reporting to maximize the discriminatory power of the locus while minimizing the reveal of sensitive genetic information. |
format | Online Article Text |
id | pubmed-7599696 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-75996962020-11-01 Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting Marshall, Charla Sturk-Andreaggi, Kimberly Ring, Joseph D. Dür, Arne Parson, Walther Genes (Basel) Article 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. We consulted the MitoMap database to identify 92 mtDNA codR variants with confirmed pathogenicity. We determined the frequencies of these pathogenic variants in literature-quality and forensic-quality databases to be very low, at 1.2% and 0.36%, respectively. The observed effect of pathogenic variant filtering on random match statistics in 2488 forensic-quality mitogenome haplotypes from four populations was nil. We propose that pathogenic variant filtering should be incorporated into variant calling algorithms for mitogenome haplotype reporting to maximize the discriminatory power of the locus while minimizing the reveal of sensitive genetic information. MDPI 2020-09-28 /pmc/articles/PMC7599696/ /pubmed/32998193 http://dx.doi.org/10.3390/genes11101140 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Marshall, Charla Sturk-Andreaggi, Kimberly Ring, Joseph D. Dür, Arne Parson, Walther Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting |
title | Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting |
title_full | Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting |
title_fullStr | Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting |
title_full_unstemmed | Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting |
title_short | Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting |
title_sort | pathogenic variant filtering for mitochondrial genome haplotype reporting |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7599696/ https://www.ncbi.nlm.nih.gov/pubmed/32998193 http://dx.doi.org/10.3390/genes11101140 |
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