Reference genomic database of the Czech population

• Authors: SVOZILOVÁ Hana; PLEVOVÁ Karla; BIAGINI Simone Andrea; PORC Jakub Paweł; HYNŠT Jakub; SVATOŇ Jan; TICHÝ Boris; BYSTRÝ Vojtěch; STRANECKY Viktor; JIRSOVA Katerina; HARTMANNOVA Hana; BENDOVA Michaela; SROVNAL Josef; DRABEK Jiri; ROZANKOVA Zuzana; KALOUSOVA Marta; ZIMA Tomas; VACULÍKOVÁ Jana; KURUCOVÁ Terézia; SIMOVA Jarmila; HEJTMÁNEK Lukáš; DOUBEK Michael; FRANKOVA Vera; BENESOVA Lucie; UVIROVA Magdalena; KMOCH Stanislav; MACEK Milan; HAJDUCH Marian; POSPÍŠILOVÁ Šárka
• Year of publication: 2025
• Type: Conference abstract
• MU Faculty or unit: Faculty of Medicine

Attached files

• Plevova.pdf
• Plevova_icthfhbm.pdf

• Description: Abstract: Background: Central Europe remains underrepresented in global genomic databases, limiting the interpretability of local genetic variants.The Analysis of Czech Genomes for Theranostics (A-C-G-T) project addressed this gap by generating whole-genome sequencing (WGS) datafrom over 1,000 Czech adults. Materials and Methods: Participants aged 30-55 without severe genetic diseases were enrolled if both parentsoriginated from the same Czech region; with individuals proportionally distributed across all 14 regions of the Czech Republic. DNA librarieswere prepared using PCR-free protocols and sequenced on Illumina NovaSeq 6000. Data processing followed the GATK best-practice pipelinevia nf-core/sarek (v2.7.1). Technical outliers and samples with cryptic relatedness (kinship coefficient >0.0884) were removed, retaining onlythird-degree or more distant relatives. Population genetic analyses, including principal component analysis (PCA), were conducted to exploredemographic patterns. Data were compared with global datasets, such as the 1000 Genomes Project (1KGP). Results: The A-C-G-T database(database.acgt.cz) contains WGS data from 1,257 healthy individuals (611 females, 646 males) after removing 10 technical outliers and 23samples with cryptic relatedness from the initial dataset (N=1,290). In the PCA, the samples cluster with other European groups from the1KGP, forming a distinct group that is well-separated from other clusters of European populations. An internal analysis revealed a possiblegenetic cline across the country. Conclusion: This Czech-specific reference improves local variant interpretation and supports precisionmedicine in Central Europe. A follow-up project (A-C-G-T 2) will expand on these data by further exploring genome variation in A-C-G-Tparticipants and analyzing patient cohorts.