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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Sequence-based allele frequency data for 25 autosomal STR loci in 1504 Korean individuals using the KplexSeq-A25 MPS
Sungmin Kim1, Jin-Ah Baek1, Taehee Um1
1Forensic Science Division, Supreme Prosecutors' Office, Seoul, 06590, Republic of Korea.
Abstract:
Sequence-based short tandem repeat (STR) allele frequencies are required for the statistical interpretation of massively parallel sequencing (MPS)-derived STR profiles. In this study, 25 autosomal STR loci were analyzed in 1504 unrelated Korean individuals using the KplexSeq-A25 MPS panel. Alleles were represented using repeat unit (RU), longest uninterrupted stretch (LUS), and extension of the LUS (LUS+) designations. A total of 351 RU, 645 LUS, and 718 LUS+ alleles were observed. At LUS+ resolution, 188 alleles observed in the Korean dataset were not represented in the lusSTR LookupTable used for comparison. No significant deviations from Hardy-Weinberg equilibrium were observed after Bonferroni correction. Comparison of 66,176 allele calls across 22 shared loci showed >99.99% concordance between MPS and capillary electrophoresis, with five discordances attributable to primer-binding-site variation. These data provide population-specific sequence-based autosomal STR allele frequencies for forensic statistical calculations in the Korean population.
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