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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216305%3A26310%2F22%3APU146855" target="_blank" >RIV/00216305:26310/22:PU146855 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14310/22:00126398

Result on the web

<a href="https://www.mdpi.com/2073-4425/13/3/556" target="_blank" >https://www.mdpi.com/2073-4425/13/3/556</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/genes13030556" target="_blank" >10.3390/genes13030556</a>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

10600 - Biological sciences

Project

<a href="/en/project/NU20-07-00145" target="_blank" >NU20-07-00145: The role of pathogenic genetic variants identified by exome sequencing in the etiology of pediatric neurodevelopmental disorders</a><br>

Continuities

S - Specificky vyzkum na vysokych skolach

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Genes

ISSN

2073-4425

e-ISSN

—

Volume of the periodical

13

Issue of the periodical within the volume

3

Country of publishing house

CH - SWITZERLAND

Number of pages

12

Pages from-to

1-12

UT code for WoS article

000776948400001

EID of the result in the Scopus database

2-s2.0-85127231775