Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.

ABSTRACT: Next-generation sequencing (NGS) became an effective approach for finding novel causative genomic variants of genetic disorders and is increasingly used for diagnostic purposes. Public variant databases that gather data of pathogenic variants are being relied upon as a source for clinical diagnosis. However, research of pathogenic variants using public databases data could be carried out not only in patients, but also in healthy people. This could provide insights into the most common recessive disorders in populations. The study aim was to use NGS and data from the ClinVar database for the identification of pathogenic variants in the exomes of healthy individuals from the Lithuanian population. To achieve this, 96 exomes were sequenced. An average of 42 139 single-nucleotide variants (SNV

SUBMITTER: Rancelis T 

PROVIDER: S-EPMC6865174 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature