AI Article Synopsis
- Genomic reference databases from different regions capture the full genetic diversity of local populations, making them useful for biomedical research and forensic identification.
- In a study involving 808 individuals from Catalonia, researchers created comprehensive sequences of mitochondrial DNA and the male-specific Y chromosome, revealing higher genetic diversity than existing population datasets.
- The study demonstrated that complete uniparental genomic sequences offer stronger identification capabilities than traditional methods, enhancing their usefulness in forensic applications and contributing one of the largest high-quality reference datasets currently available.
Article Abstract
Genomic reference databases of residing populations are available in different countries and regions. Since they represent the whole genetic diversity of a geographical region, they have wide applications, from biomedical studies to forensic identifications. Uniparentally transmitted portions of the genome specifically are highly suitable for kinship analyses, mixed DNA cases and geographical ancestry inferences. We have sampled 808 individuals currently residing in Catalonia within the GCAT cohort, from which we have generated 808 high-quality whole mitochondrial DNA (mtDNA) genomes and 399 sequences of the male-specific part of the Y chromosome (MSY). We observe higher genetic diversity than in classical population genetics datasets. We test the robustness of whole sequences for unequivocal identifications, and we found that they have higher resolution than mitochondrial control region and Y chromosome short tandem repeats (Y-STRs), and that most of the variants they present are at low frequencies, increasing the discrimination capacity between individuals. These results confirm the forensic applicability of whole uniparental sequences and provide one of the largest high-quality reference datasets ever published.
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| http://dx.doi.org/10.1016/j.fsigen.2022.102783 | DOI Listing |
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