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

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dc.contributor.authorSmetana, Jancs
dc.contributor.authorBrož, Petrcs
dc.coverage.issue3cs
dc.coverage.volume13cs
dc.date.issued2022-03-22cs
dc.description.abstractIdentification 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.en
dc.formattextcs
dc.format.extent1-12cs
dc.format.mimetypeapplication/pdfcs
dc.identifier.citationGenes. 2022, vol. 13, issue 3, p. 1-12.en
dc.identifier.doi10.3390/genes13030556cs
dc.identifier.issn2073-4425cs
dc.identifier.orcid0000-0002-3770-1754cs
dc.identifier.other180812cs
dc.identifier.urihttp://hdl.handle.net/11012/209173
dc.language.isoencs
dc.publisherMDPIcs
dc.relation.ispartofGenescs
dc.relation.urihttps://www.mdpi.com/2073-4425/13/3/556cs
dc.rightsCreative Commons Attribution 4.0 Internationalcs
dc.rights.accessopenAccesscs
dc.rights.sherpahttp://www.sherpa.ac.uk/romeo/issn/2073-4425/cs
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/cs
dc.subjectnational genome projecten
dc.subjectwhole-genome sequencingen
dc.subjectpopulationen
dc.subjectgenetic variability Europeen
dc.subjectUnited Kingdomen
dc.titleNational Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Reviewen
dc.type.driverarticleen
dc.type.statusPeer-revieweden
dc.type.versionpublishedVersionen
sync.item.dbidVAV-180812en
sync.item.dbtypeVAVen
sync.item.insts2025.02.03 15:38:42en
sync.item.modts2025.01.17 16:42:18en
thesis.grantorVysoké učení technické v Brně. Fakulta chemická. Ústav chemie potravin a biotechnologiícs
thesis.grantorVysoké učení technické v Brně. . Přírodovědecká fakultacs
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