Complete Mitochondrial DNA Genome Variation in the Swedish Population

Andreaggi, KimberlyUppsala universitet,Genomik och neurobiologi,Armed Forces Medical Examiner System’s Armed Forces DNA Identification Laboratory (AFMES-AFDIL), Dover Air Force Base, DE 19902, USA;SNA International, LLC, Alexandria, VI 22314, USA,Allen (författare)

The development of complete mitochondrial genome (mitogenome) reference data for inclusion in publicly available population databases is currently underway, and the generation of more high-quality mitogenomes will only enhance the statistical power of this forensically useful locus. To characterize mitogenome variation in Sweden, the mitochondrial DNA (mtDNA) reads from the SweGen whole genome sequencing (WGS) dataset were analyzed. To overcome the interference from low-frequency nuclear mtDNA segments (NUMTs), a 10% variant frequency threshold was applied for the analysis. In total, 934 forensic-quality mitogenome haplotypes were characterized. Almost 45% of the SweGen haplotypes belonged to haplogroup H. Nearly all mitogenome haplotypes (99.1%) were assigned to European haplogroups, which was expected based on previous mtDNA studies of the Swedish population. There were signature northern Swedish and Finnish haplogroups observed in the dataset (e.g., U5b1, W1a), consistent with the nuclear DNA analyses of the SweGen data. The complete mitogenome analysis resulted in high haplotype diversity (0.9996) with a random match probability of 0.15%. Overall, the SweGen mitogenomes provide a large mtDNA reference dataset for the Swedish population and also contribute to the effort to estimate global mitogenome haplotype frequencies.

Bodner, MartinInstitute of Legal Medicine, Medical University of Innsbruck, 6020 Innsbruck, Austria (författare)
Ring, Joseph D.Armed Forces Medical Examiner System’s Armed Forces DNA Identification Laboratory (AFMES-AFDIL), Dover Air Force Base, DE 19902, USA;SNA International, LLC, Alexandria, VI 22314, USA (författare)
Ameur, AdamUppsala universitet,Institutionen för immunologi, genetik och patologi(Swepub:uu)adame789 (författare)
Gyllensten, Ulf B.Uppsala universitet,Genomik och neurobiologi(Swepub:uu)ulfgyll (författare)
Parson, WaltherInstitute of Legal Medicine, Medical University of Innsbruck, 6020 Innsbruck, Austria;Forensic Science Program, The Pennsylvania State University, University Park, State College, PA 16801, USA (författare)
Marshall, CharlaArmed Forces Medical Examiner System’s Armed Forces DNA Identification Laboratory (AFMES-AFDIL), Dover Air Force Base, DE 19902, USA;Forensic Science Program, The Pennsylvania State University, University Park, State College, PA 16801, USA (författare)
Allen, MarieUppsala universitet,Genomik och neurobiologi,Allen(Swepub:uu)marialle (författare)
Uppsala universitetGenomik och neurobiologi (creator_code:org_t)

Av författaren/redakt...: Andreaggi, Kimbe ...; Bodner, Martin; Ring, Joseph D.; Ameur, Adam; Gyllensten, Ulf ...; Parson, Walther; visa fler...; Marshall, Charla; Allen, Marie; visa färre...

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