Interpreting NUMTs in forensic genetics: Seeing the forest for the trees
نویسندگان
چکیده
Nuclear mitochondrial DNA (mtDNA) segments (NUMTs) were discovered shortly after sequencing the first human genome. They have earlier been considered to represent archaic elements of ancient insertion events, but modern technologies and growing databases mtDNA NUMT sequences confirm that they are abundant some them phylogenetically young. Here, we build upon mtDNA/NUMT review articles published in mid 2010 s focus on distinction NUMTs other artefacts can be observed aligned sequence reads, such as mixtures (contamination), point heteroplasmy, error cytosine deamination. We show practical examples effect enrichment method representation mapped data discuss methods bioinformatically filter from reads.
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ژورنال
عنوان ژورنال: Forensic Science International-genetics
سال: 2021
ISSN: ['1872-4973', '1878-0326']
DOI: https://doi.org/10.1016/j.fsigen.2021.102497