Insights Into de novo Mutation Variation in Lithuanian Exome.

ABSTRACT: In the last decade, one of the biggest challenges in genomics research has been to distinguish definitive pathogenic variants from all likely pathogenic variants identified by next-generation sequencing. This task is particularly complex because of our lack of knowledge regarding overall genome variation and pathogenicity of the variants. Therefore, obtaining sufficient information about genome variants in the general population is necessary as such data could be used for the interpretation of de novo mutations (DNMs) in the context of patient's phenotype in cases of sporadic genetic disease. In this study, data from whole-exome sequencing of the general population in Lithuania were directly examined. In total, 84 (VarScan) and 95 (VarSeq^TM) DNMs were identified and valid

SUBMITTER: Pranckeniene L 

PROVIDER: S-EPMC6102505 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature