National Genome Initiatives in Europe and the United Kingdom in
the Era of Whole-Genome Sequencing: A Comprehensive Review

J 2022

National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review

SMETANA, Jan a Petr BROŽ

Základní údaje

Originální název

National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review

Autoři

SMETANA, Jan a Petr BROŽ

Vydání

Genes, MDPI, 2022, 2073-4425

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.500

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/22:00126398

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

national genome project; whole-genome sequencing; population; genetic variability Europe; United Kingdom

Štítky

14314010, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 9. 8. 2022 15:02, Mgr. Marie Novosadová Šípková, DiS.

Anotace

V originále

Identification of genomic variability in population plays an important role in the clinical diagnostics of human genetic diseases. Thanks to rapid technological development in the field of massive parallel sequencing technologies, also known as next-generation sequencing (NGS), complex genomic analyses are now easier and cheaper than ever before, which consequently leads to more effective utilization of these techniques in clinical practice. However, interpretation of data from NGS is still challenging due to several issues caused by natural variability of DNA sequences in human populations. Therefore, development and realization of projects focused on description of genetic variability of local population (often called "national or digital genome") with a NGS technique is one of the best approaches to address this problem. The next step of the process is to share such data via publicly available databases. Such databases are important for the interpretation of variants with unknown significance or (likely) pathogenic variants in rare diseases or cancer or generally for identification of pathological variants in a patient's genome. In this paper, we have compiled an overview of published results of local genome sequencing projects from United Kingdom and Europe together with future plans and perspectives for newly announced ones.

Návaznosti

NU20-07-00145, projekt VaV

Název: Úloha patogenních genetických variant detekovaných pomocí exomového sekvenování v etiologii dětských neurovývojových onemocnění

Investor: Ministerstvo zdravotnictví ČR, Úloha patogenních genetických variant detekovaných pomocí exomového sekvenování v etiologii dětských neurovývojových onemocnění, Podprogram 1 - standardní

Citovat

SMETANA, Jan a Petr BROŽ. National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review. Genes. MDPI, 2022, roč. 13, č. 3, s. 1-12. ISSN 2073-4425. Dostupné z: https://doi.org/10.3390/genes13030556.

@article{2210841,
   author = {Smetana, Jan and Brož, Petr},
   article_number = {3},
   doi = {https://doi.org/10.3390/genes13030556},
   keywords = {national genome project; whole-genome sequencing; population; genetic variability Europe; United Kingdom},
   language = {eng},
   issn = {2073-4425},
   journal = {Genes},
   title = {National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review},
   url = {https://www.mdpi.com/2073-4425/13/3/556},
   volume = {13},
   year = {2022}
}

TY  - JOUR
ID  - 2210841
AU  - Smetana, Jan - Brož, Petr
PY  - 2022
TI  - National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review
JF  - Genes
VL  - 13
IS  - 3
SP  - 1-12
EP  - 1-12
PB  - MDPI
SN  - 20734425
KW  - national genome project
KW  - whole-genome sequencing
KW  - population
KW  - genetic variability Europe
KW  - United Kingdom
UR  - https://www.mdpi.com/2073-4425/13/3/556
N2  - Identification of genomic variability in population plays an important role in the clinical diagnostics of human genetic diseases. Thanks to rapid technological development in the field of massive parallel sequencing technologies, also known as next-generation sequencing (NGS), complex genomic analyses are now easier and cheaper than ever before, which consequently leads to more effective utilization of these techniques in clinical practice. However, interpretation of data from NGS is still challenging due to several issues caused by natural variability of DNA sequences in human populations. Therefore, development and realization of projects focused on description of genetic variability of local population (often called "national or digital genome") with a NGS technique is one of the best approaches to address this problem. The next step of the process is to share such data via publicly available databases. Such databases are important for the interpretation of variants with unknown significance or (likely) pathogenic variants in rare diseases or cancer or generally for identification of pathological variants in a patient's genome. In this paper, we have compiled an overview of published results of local genome sequencing projects from United Kingdom and Europe together with future plans and perspectives for newly announced ones.
ER  -

SMETANA, Jan a Petr BROŽ. National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review. \textit{Genes}. MDPI, 2022, roč.~13, č.~3, s.~1-12. ISSN~2073-4425. Dostupné z: https://doi.org/10.3390/genes13030556.

Přehled o publikaci