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Detection of chromosomal aneuploidy in ancient genomes - Communications Biology

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Detection of chromosomal aneuploidy in ancient genomes - Communications Biology

Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA.

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Detection of chromosomal aneuploidy in ancient genomes - Communications Biology

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