Short tandem repeat typing on the 454 platform: Strategies and considerations for targeted sequencing of common forensic markers

Multiplex Y-STRs analysis using the ion torrent personal genome machine (PGM)

“…The sequence variations have been reported in autosome STRs, described by Zeng et al [7], Gelardi et al [8], Scheible et al [9], Rockenbauer et al [11], and within STRbase [17]. In this study, six of the thirteen Y-STR loci, DYS389Ⅱ, DYS390, DYS437, DYS438, DYS448 and DYS635, showed alleles with identical lengths but with different sequences.…”

“…Compared to the capillary electrophoresis (CE), the conventional STR typing method, MPS detects not only fragment length polymorphism, but also the detailed sequence variation of specific locus potentially to increase the discriminatory power. Several studies have been conducted to sequence autosomal STRs or SNPs using MPS platforms [7][8][9][10][11][12][13][14][15]. All these studies demonstrate that multiplex STR typing by MPS holds promise for forensic applications.…”

Massively parallel sequencing of complete mitochondrial genomes from hair shaft samples

“…However, as predicted nearly five years ago [10], massively parallel sequencing technologies (MPS) are now finding their way into the forensic arena [8,[11][12][13][14][15][16][17][18][19][20]. These technologies largely remove the greatest existing technical and cost barriers to mtGenome sequencing of low DNA quality and quantity specimens.…”

Next generation sequencing and its applications in forensic genetics

“…In the years after the first NGS platforms were launched, the read lengths of most instruments were too short to span many repeat structures which made it difficult to align reads with repetitive sequences and often these reads were simply ignored. The pyrosequencers were the only platforms with sufficient read length to sequence the core STR loci used in forensic genetics and to date, most of the forensic literature with NGS STR data were produced with pyrosequencing technology [62][63][64][65][66][67][68][69][70]. In a few reports, sequencing by synthesis [71][72][73] and recently also semiconductor sequencing [70,74] were used.…”

“…Previously unknown STR alleles and more overall variability has been found by NGS of mainly complex and compound STRs [65,66,69], whereas few new alleles have been detected by sequencing of simple STRs [62,69,74]. Complex and compound STRs consist of different sub-repeats and, if the individual sub-repeats are polymorphic, the number of possible alleles will be much higher than in simple repeats (it is equivalent to having two STRs in a haplotype).…”