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European Journal of Human Genetics ; 31(Supplement 1):707, 2023.
Article in English | EMBASE | ID: covidwho-20235632

ABSTRACT

Background/Objectives: COVID-19 can affect anyone with the disease's symptoms ranging from mild to very severe. Although environmental, clinical, and social factors play an important role in the disease process, host genetic factors are not negligible either. In the present article, we attempted to elaborate on the spectrum of risk variants and genes identified in different ways and their possible relationship to COVID-19 severity and/or mortality. Method(s): We present three different approaches to search host genetic risk factors that influence the development of COVID-19 disease. First, we analyzed the exome sequencing data obtained from Slovak patients who died of COVID-19. Second, we selected risk factors/genes that were associated with COVID-19. Finally, we compared each group of found risk variants with data from dead patients and two control groups, worldwide public data of the Non-Finnish European population from the gnomAD database, and genetic data from Non-invasive prenatal testing in the Slovak population. Result(s): We illustrate the utility of genomic data showed strong association in meta-analyses conducted by the COVID-19 HGI Browser. Conclusion(s): To our knowledge, the present study is the first population analysis of COVID-19 variants worldwide and also in the Slovak population that provides different approaches to the analysis of genetic variants in whole-exome sequencing data from patients who have died of COVID-19.

2.
21st Conference Information Technologies - Applications and Theory, ITAT 2021 ; 2962:293-300, 2021.
Article in English | Scopus | ID: covidwho-1469210

ABSTRACT

The ongoing SARS-CoV-2 pandemic, which emerged in December 2019, revolutionized genomic surveillance, leading to new means of tracking viral spread and monitoring genetic changes in their genomes over time. One of the key sequencing methods used during the pandemic is based on massively parallel short read sequencing based on Illumina technology. In this work, we present a highly scalable and easily deployable computational pipeline for the analysis of Illumina sequencing data, which is used in Slovak SARS-CoV-2 genomic surveillance efforts. We discuss several issues that arose during the pipeline design, and which could both provide useful insight into the analysis processes and serve as a guideline for optimized future outbreak surveillance projects. Copyright © 2021 for this paper by its authors.

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