Modern molecular genetic epidemiology is scaled towards large-scale analyses, including genome wide association studies (GWAS) containing hundreds of thousands to millions of single nucleotide polymorphisms. In addition to generating information on alleles at each SNP, GWAS can also be used to evaluate copy number variation (CNVs) across the genome. Traditionally, these studies have been carried out using DNA extracted from lymphocytes in blood samples. More recently, the use of DNA extracted from less invasive methods has become attractive in epidemiological studies. Here, we examine the feasibility of using DNA from saliva to assess CNVs in a pangenome study.
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Last date updated on June, 2023