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Article

Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA.

PloS one - 1 Jan 2022

Toncheva Draga, Marinova Maria, Borovska Plamenka, Serbezov Dimitar

Abstract excerpt

Genetic disease burden in ancient communities has barely been evaluated despite an ever expanding body of ancient genomes becoming available. In this study, we inspect 2729 publicly available ancient genomes (100 BP-52000 BP) for the presence of pathogenic variants in 32643 disease-associated loci. We base our subsequent analyses on 19 variants in seven genes-PAH, EDAR, F11, HBB, LRRK2, SLC12A6 and MAOA,...

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Identifiers

PMID: 35749392
DOI: 10.1371/journal.pone.0269628
PMCID: PMC9231702

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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