RT Journal Article
SR Electronic
T1 ‘The Thousand Polish Genomes Project’ - a national database of Polish variant allele frequencies
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2021.07.07.451425
DO 10.1101/2021.07.07.451425
A1 Elżbieta Kaja
A1 Adrian Lejman
A1 Dawid Sielski
A1 Mateusz Sypniewski
A1 Tomasz Gambin
A1 Tomasz Suchocki
A1 Mateusz Dawidziuk
A1 Paweł Golik
A1 Marzena Wojtaszewska
A1 Maria Stępień
A1 Joanna Szyda
A1 Karolina Lisiak-Teodorczyk
A1 Filip Wolbach
A1 Daria Kołodziejska
A1 Katarzyna Ferdyn
A1 Alicja Woźna
A1 Marcin Żytkiewicz
A1 Anna Bodora-Troińska
A1 Waldemar Elikowski
A1 Zbigniew Król
A1 Artur Zaczyński
A1 Agnieszka Pawlak
A1 Robert Gil
A1 Waldemar Wierzba
A1 Paula Dobosz
A1 Katarzyna Zawadzka
A1 Paweł Zawadzki
A1 Paweł Sztromwasser
YR 2021
UL http://biorxiv.org/content/early/2021/07/09/2021.07.07.451425.abstract
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.