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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Typing of 49 autosomal SNPs by SNaPshot in the Slovenian population
Katja Drobnic1, Claus Børsting, Eszter Rockenbauer
1Faculty of Criminal Justice and Security, University of Maribor, Kotnikova 8, 1000 Ljubljana, Slovenia. katja.drobnic@policija.si
Abstract:
A total of 157 unrelated individuals residing in Slovenia were typed for 49 of the autosomal single nucleotide polymorphisms (SNPs) in the SNPforID 52plex with the SNaPshot assay. We obtained full SNP profiles in all but one individual and perfect concordance was obtained in duplicated analyses. Allele frequencies are presented for the 49 SNPs. No deviation from HWE was observed for any SNP. F(IS) and F(ST) were estimated. A principal coordinate analysis performed on six populations (Slovenian, Danish, Somali, Greenland, Turkish and Chinese) showed that the Slovenian population grouped with the Danish population. The mean power of discrimination for the Slovenian population was 1.1 x 10(-19), and the mean exclusion probability for trios was 99.96%.
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