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The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies

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dc.abstract.enAlthough Slavic populations account for over 4.5% of world inhabitants, no centralised, open-source reference database of genetic variation of any Slavic population exists to date. Such data are crucial for clinical genetics, biomedical research, as well as archeological and historical studies. The Polish population, which is homogenous and sedentary in its nature but influenced by many migrations of the past, is unique and could serve as a genetic reference for the Slavic nations. In this study, we analysed whole genomes of 1222 Poles to identify and genotype a wide spectrum of genomic variation, such as small and structural variants, runs of homozygosity, mitochondrial haplogroups, and de novo variants. Common variant analyses showed that the Polish cohort is highly homogenous and shares ancestry with other European populations. In rare variant analyses, we identified 32 autosomal-recessive genes with significantly different frequencies of pathogenic alleles in the Polish population as compared to the non-Finish Europeans, including C2, TGM5, NUP93, C19orf12, and PROP1. The allele frequencies for small and structural variants, calculated for 1076 unrelated individuals, are released publicly as The Thousand Polish Genomes database, and will contribute to the worldwide genomic resources available to researchers and clinicians.
dc.affiliationUniwersytet Warszawski
dc.contributor.authorGolik, Paweł
dc.contributor.authorSztromwasser, Paweł
dc.contributor.authorZawadzki, Paweł
dc.contributor.authorZawadzka, Katarzyna
dc.contributor.authorDobosz, Paula
dc.contributor.authorWierzba, Waldemar
dc.contributor.authorGil, Robert
dc.contributor.authorPawlak, Agnieszka
dc.contributor.authorZaczyński, Artur
dc.contributor.authorKról, Zbigniew J.
dc.contributor.authorElikowski, Waldemar
dc.contributor.authorBodora-Troińska, Anna
dc.contributor.authorŻytkiewicz, Marcin
dc.contributor.authorWoźna, Alicja
dc.contributor.authorDąbrowski, Maciej
dc.contributor.authorFerdyn, Katarzyna
dc.contributor.authorKołodziejska, Daria
dc.contributor.authorWolbach, Filip
dc.contributor.authorLisiak-Teodorczyk, Karolina
dc.contributor.authorStępień, Maria
dc.contributor.authorWojtaszewska, Marzena
dc.contributor.authorDawidziuk, Mateusz
dc.contributor.authorGambin, Tomasz
dc.contributor.authorSypniewski, Mateusz
dc.contributor.authorSielski, Dawid
dc.contributor.authorLejman, Adrian
dc.contributor.authorKaja, Elżbieta
dc.contributor.authorSzyda, Joanna
dc.contributor.authorSuchocki, Tomasz
dc.contributor.authorMroczek, M.
dc.date.accessioned2024-01-26T10:49:32Z
dc.date.available2024-01-26T10:49:32Z
dc.date.copyright2022-04-20
dc.date.issued2022
dc.description.accesstimeAT_PUBLICATION
dc.description.financeNie dotyczy
dc.description.number9
dc.description.versionFINAL_PUBLISHED
dc.description.volume23
dc.identifier.doi10.3390/IJMS23094532
dc.identifier.issn1422-0067
dc.identifier.urihttps://repozytorium.uw.edu.pl//handle/item/123224
dc.identifier.weblinkhttps://www.mdpi.com/1422-0067/23/9/4532
dc.languageeng
dc.pbn.affiliationbiological sciences
dc.relation.ispartofInternational Journal of Molecular Sciences
dc.relation.pages1-17
dc.rightsCC-BY
dc.sciencecloudnosend
dc.subject.enallele frequency
dc.subject.engenome
dc.subject.enwhole-genome sequencing
dc.subject.enpopulation genomics
dc.subject.enallelic distribution
dc.subject.enPolish genomes
dc.titleThe Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies
dc.typeJournalArticle
dspace.entity.typePublication