Reference genomic database of the Czech population

a 2025

Reference genomic database of the Czech population

SVOZILOVÁ, Hana; Karla PLEVOVÁ; Simone Andrea BIAGINI; Jakub Paweł PORC; Jakub HYNŠT et al.

Základní údaje

Originální název

Reference genomic database of the Czech population

Autoři

SVOZILOVÁ, Hana ; Karla PLEVOVÁ; Simone Andrea BIAGINI; Jakub Paweł PORC ; Jakub HYNŠT; Jan SVATOŇ; Boris TICHÝ ; Vojtěch BYSTRÝ; Viktor STRANECKY; Katerina JIRSOVA; Hana HARTMANNOVA; Michaela BENDOVA; Josef SROVNAL; Jiri DRABEK; Zuzana ROZANKOVA; Marta KALOUSOVA; Tomas ZIMA; Jana VACULÍKOVÁ; Terézia KURUCOVÁ ; Jarmila SIMOVA; Lukáš HEJTMÁNEK; Michael DOUBEK; Vera FRANKOVA; Lucie BENESOVA; Magdalena UVIROVA; Stanislav KMOCH; Milan MACEK; Marian HAJDUCH a Šárka POSPÍŠILOVÁ

Vydání

European Human Genetics Conference, Milan, 2025

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

10603 Genetics and heredity

Stát vydavatele

Itálie

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/25:00143709

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Czech; WGS; reference

Štítky

rivok

Změněno: 14. 2. 2026 06:37, Mgr. Eva Dubská

Anotace

V originále

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.

Návaznosti

EH22_008/0004593, projekt VaV

Název: Připraveni na budoucnost: porozumění dlouhodobé odolnosti lidské kultury (RES-HUM)

Přiložené soubory

Plevova.pdf

Požádat o autorskou verzi souboru

Plevova_icthfhbm.pdf

Požádat o autorskou verzi souboru

Citovat

SVOZILOVÁ, Hana; Karla PLEVOVÁ; Simone Andrea BIAGINI; Jakub Paweł PORC; Jakub HYNŠT; Jan SVATOŇ; Boris TICHÝ; Vojtěch BYSTRÝ; Viktor STRANECKY; Katerina JIRSOVA; Hana HARTMANNOVA; Michaela BENDOVA; Josef SROVNAL; Jiri DRABEK; Zuzana ROZANKOVA; Marta KALOUSOVA; Tomas ZIMA; Jana VACULÍKOVÁ; Terézia KURUCOVÁ; Jarmila SIMOVA; Lukáš HEJTMÁNEK; Michael DOUBEK; Vera FRANKOVA; Lucie BENESOVA; Magdalena UVIROVA; Stanislav KMOCH; Milan MACEK; Marian HAJDUCH a Šárka POSPÍŠILOVÁ. Reference genomic database of the Czech population. In European Human Genetics Conference, Milan. 2025.

@proceedings{2554540,
   author = {Svozilová, Hana and Plevová, Karla and Biagini, Simone Andrea and Porc, Jakub Paweł and Hynšt, Jakub and Svatoň, Jan and Tichý, Boris and Bystrý, Vojtěch and Stranecky, Viktor and Jirsova, Katerina and Hartmannova, Hana and Bendova, Michaela and Srovnal, Josef and Drabek, Jiri and Rozankova, Zuzana and Kalousova, Marta and Zima, Tomas and Vaculíková, Jana and Kurucová, Terézia and Simova, Jarmila and Hejtmánek, Lukáš and Doubek, Michael and Frankova, Vera and Benesova, Lucie and Uvirova, Magdalena and Kmoch, Stanislav and Macek, Milan and Hajduch, Marian and Pospíšilová, Šárka},
   booktitle = {European Human Genetics Conference, Milan},
   keywords = {Czech; WGS; reference},
   language = {eng},
   title = {Reference genomic database of the Czech population},
   url = {https://2025.eshg.org/},
   year = {2025}
}

TY  - CONF
ID  - 2554540
AU  - 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
PY  - 2025
TI  - Reference genomic database of the Czech population
KW  - Czech
KW  - WGS
KW  - reference
UR  - https://2025.eshg.org/
N2  - 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.
ER  -

SVOZILOVÁ, Hana; Karla PLEVOVÁ; Simone Andrea BIAGINI; Jakub Paweł PORC; Jakub HYNŠT; Jan SVATOŇ; Boris TICHÝ; Vojtěch BYSTRÝ; Viktor STRANECKY; Katerina JIRSOVA; Hana HARTMANNOVA; Michaela BENDOVA; Josef SROVNAL; Jiri DRABEK; Zuzana ROZANKOVA; Marta KALOUSOVA; Tomas ZIMA; Jana VACULÍKOVÁ; Terézia KURUCOVÁ; Jarmila SIMOVA; Lukáš HEJTMÁNEK; Michael DOUBEK; Vera FRANKOVA; Lucie BENESOVA; Magdalena UVIROVA; Stanislav KMOCH; Milan MACEK; Marian HAJDUCH a Šárka POSPÍŠILOVÁ. Reference genomic database of the Czech population. In \textit{European Human Genetics Conference, Milan}. 2025.

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