Characterization of sequence variations in the D21S11 locus in Danes, Somalis and Greenlanders by second generation sequencing

Second generation sequencing of three STRs D3S1358, D12S391 and D21S11 in Danes and a new nomenclature for sequenced STR alleles

“…When establishing a SGSbased frequency database, all of these variations must be taken into account and the alleles must be given a unique name. In earlier SGS-studies [1,2,5,7,8] alleles of the same lengths but with different sequences were named e.g. 20a, 20b, 20c etc.…”

“…However, second generation sequencing (SGS) methods provide an interesting alternative to the PCR-CE methods. It was possible to investigate the true variation in STR loci with SGS and identify previously unknown alleles and mutational events in relationship cases [1][2][3][4][5][6][7][8][9][10][11][12]. It was also possible to identify SNP-STR haplotypes by sequencing both the STR and closely located SNPs [1,2,4,7].…”

An evaluation of the PowerSeq™ Auto System: A multiplex short tandem repeat marker kit compatible with massively parallel sequencing

“…Fordyce et al [18] described the analysis of 10 STRs on a variety of biological samples using the Ion PGM TM . Gelardi et al [19] and Rockenbauer et al [20] characterized mutations and sequence variants in STR loci. Previously, Zeng et al [9] described a prototype STR multiplex (17 STR loci + Amelogenin) compatible with the MiSeq system (Illumina, San Diego, CA, USA).…”