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Updated: Jun 13, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Frequency assessment of 25 SNPs in five different populations
Ilenia Pietrangeli1, Enrica Ottaviani, Claudia Martone
1Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Rome, Italy.
Abstract:
Allele and genotype frequencies of 25 SNPs previously selected and validated for forensic purposes were assessed in 250 unrelated individuals originating from five different countries of Europe (Spain, Croatia, Bulgaria, Turkey and Serbia). All the SNPs generated extremely low F(st) values confirming our previous results on Italian, African (Benin) and Asian (Mongolian) populations. As a consequence of such F(st) values we observed similar values of random match probability across the populations: 2.26 x 10(-10) in the Spanish population, 2.13 x 10(-10) in the Croatian population, 4.21 x 10(-10) in the Bulgarian population, 2.52 x 10(-10) in the Serbian population and 1.46 x 10(-10) in the Turkish population.
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