Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10410760" target="_blank" >RIV/00216208:11130/20:10410760 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/20:10410760

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=zc21BYZO-c" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=zc21BYZO-c</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1089/gtmb.2019.0232" target="_blank" >10.1089/gtmb.2019.0232</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases

Popis výsledku v původním jazyce

Aims: Genomic studies play a major role in variant observations between and within populations and in identifying causal relationships between genotypes and phenotypes. Analyses using databases such as gnomAD can provide insight into the frequencies of alleles in large populations. There have been reports that detail such frequencies for several countries and ethnic groups, but as yet, there are no such datasets for the Czech population. Patients and Methods: Whole-exome sequencing (WES) data from 222 individuals from the Czech Republic were analyzed by The Genome Analysis Toolkit best practices pipeline. These data were annotated with the ANNOVAR tool, and the allele frequencies were computed. Results: We developed a database that contains 300,111 variants in 17,512 genes. It is accessible through a simple web query available at prot2hg.com/variantbrowser. Gene-based analyses identified those genes that are most tolerant to variants in our population. Second, allele frequencies in our population were compared to the gnomAD database and groups of variants frequent in our population, but ultra-rare in gnomAD as a whole were identified. Conclusion: This tool should be useful for detecting local variants in the Czech population of patients with neurogenetic diseases.

Název v anglickém jazyce

Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases

Popis výsledku anglicky

Aims: Genomic studies play a major role in variant observations between and within populations and in identifying causal relationships between genotypes and phenotypes. Analyses using databases such as gnomAD can provide insight into the frequencies of alleles in large populations. There have been reports that detail such frequencies for several countries and ethnic groups, but as yet, there are no such datasets for the Czech population. Patients and Methods: Whole-exome sequencing (WES) data from 222 individuals from the Czech Republic were analyzed by The Genome Analysis Toolkit best practices pipeline. These data were annotated with the ANNOVAR tool, and the allele frequencies were computed. Results: We developed a database that contains 300,111 variants in 17,512 genes. It is accessible through a simple web query available at prot2hg.com/variantbrowser. Gene-based analyses identified those genes that are most tolerant to variants in our population. Second, allele frequencies in our population were compared to the gnomAD database and groups of variants frequent in our population, but ultra-rare in gnomAD as a whole were identified. Conclusion: This tool should be useful for detecting local variants in the Czech population of patients with neurogenetic diseases.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

—

Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

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

Název periodika

Genetic Testing and Molecular Biomarkers

ISSN

1945-0265

e-ISSN

—

Svazek periodika

24

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

264-273

Kód UT WoS článku

000525217200001

EID výsledku v databázi Scopus

2-s2.0-85084721389