ArticleGenes2022
Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift.
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 3 citations in OpenAlex.
- Evolutionary Origin of Ocular Melanoma: Associations With rs12913832 G Allele Frequency and Latitude.Cancer medicine · 2026Observational
- Brain-derived neurotrophic factor gene polymorphism rs6265 and elite athlete status in four independent populations.Biology of sport · 2025Article
- Lenticulostriate vasculopathy in newborns: whole genome sequencing data analysis.Frontiers in pediatrics · 2025Article
- Microevolutionary processes analysis in the Lithuanian genome.Scientific reports · 2023Article
- Identifying Genomic Signatures of Positive Selection to Predict Protective Genomic Loci in the Cohort of Lithuanian Clean-Up Workers of the Chornobyl Nuclear Disaster.Current issues in molecular biology · 2023Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most genetic variants are rare and specific to the population, highlighting the importance of characterizing local population genetic diversity. Many countries have initiated population-based whole-genome sequencing (WGS) studies. Genomic variation within Lithuanian families are not available in the public databases. Here, we describe initial findings of a high-coverage (an average of 36.27×) whole genome sequencing for 25 trios of the Lithuanian population. Each genome on average carried approximately 4,701,473 (±28,255) variants, where 80.6% (3,787,626) were single nucleotide polymorphisms (SNPs), and the rest 19.4% were indels. An average of 12.45% was novel according to dbSNP (build 150). The WGS structural variation (SV) analysis identified on average 9133 (±85.10) SVs, of which 95.85% were novel. De novo single nucleotide variation (SNV) analysis identified 4417 variants, where 1.1% de novo SNVs were exonic, 43.9% intronic, 51.9% intergenic, and the rest 3.13% in UTR or downstream sequence. Three potential pathogenic de novo variants in the
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