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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...

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Detalles Bibliográficos
Autores principales: Marshall, Charla, Sturk-Andreaggi, Kimberly, Ring, Joseph D., Dür, Arne, Parson, Walther
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
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