PT  - JOURNAL ARTICLE
AU  - Elżbieta Kaja
AU  - Adrian Lejman
AU  - Dawid Sielski
AU  - Mateusz Sypniewski
AU  - Tomasz Gambin
AU  - Tomasz Suchocki
AU  - Mateusz Dawidziuk
AU  - Paweł Golik
AU  - Marzena Wojtaszewska
AU  - Maria Stępień
AU  - Joanna Szyda
AU  - Karolina Lisiak-Teodorczyk
AU  - Filip Wolbach
AU  - Daria Kołodziejska
AU  - Katarzyna Ferdyn
AU  - Alicja Woźna
AU  - Marcin Żytkiewicz
AU  - Anna Bodora-Troińska
AU  - Waldemar Elikowski
AU  - Zbigniew Król
AU  - Artur Zaczyński
AU  - Agnieszka Pawlak
AU  - Robert Gil
AU  - Waldemar Wierzba
AU  - Paula Dobosz
AU  - Katarzyna Zawadzka
AU  - Paweł Zawadzki
AU  - Paweł Sztromwasser
TI  - ‘The Thousand Polish Genomes Project’ - a national database of Polish variant allele frequencies
AID  - 10.1101/2021.07.07.451425
DP  - 2021 Jan 01
TA  - bioRxiv
PG  - 2021.07.07.451425
4099  - http://biorxiv.org/content/early/2021/07/09/2021.07.07.451425.short
4100  - http://biorxiv.org/content/early/2021/07/09/2021.07.07.451425.full
AB  - Although Slavic populations account for over 3.5% of world inhabitants, no centralized, open source reference database of genetic variation of any Slavic population exists to date. Such data are crucial for either biomedical research and genetic counseling and are essential for archeological and historical studies. Polish population, homogenous and sedentary in its nature but influenced by many migrations of the past, is unique and could serve as a good genetic reference for middle European Slavic nations.The aim of the present study was to describe first results of analyses of a newly created national database of Polish genomic variant allele frequencies. Never before has any study on the whole genomes of Polish population been conducted on such a large number of individuals (1,079).A wide spectrum of genomic variation was identified and genotyped, such as small and structural variants, runs of homozygosity, mitochondrial haplogroups and Mendelian inconsistencies. The allele frequencies were calculated for 943 unrelated individuals and released publicly as The Thousand Polish Genomes database. A precise detection and characterisation of rare variants enriched in the Polish population allowed to confirm the allele frequencies for known pathogenic variants in diseases, such as Smith-Lemli-Opitz syndrome (SLOS) or Nijmegen breakage syndrome (NBS). Additionally, the analysis of OMIM AR genes led to the identification of 22 genes with significantly different cumulative allele frequencies in the Polish (POL) vs European NFE population. We hope that The Thousand Polish Genomes database will contribute to the worldwide genomic data resources for researchers and clinicians.Competing Interest StatementThe authors have declared no competing interest.