These

validation results verify that the PowerPlex® Fusion System is a robust and reliable STR-typing multiplex suitable for human identification. “
“Two advances in DNA technology require that forensic practitioners consider single nucleotide polymorphisms (SNPs) as supplementary to or instead of the current use of short XL184 chemical structure tandem repeat polymorphisms (STRPs) typed by electrophoretic methods. One is the chip technology that allows large numbers of SNPs to be typed rapidly and cheaply. Obviously this technology is poorly suited for genotyping STRPs. However, panels of SNPs can provide as much individual uniqueness as the standard CODIS panel of STRPs [1], [2] and [3]. Other panels of SNPs provide information on ancestry of the individual contributing a DNA sample [4], [5], [6], [7], [8], [9], [10], [11] and [12]. SNP genotypes at the appropriate

loci can also provide information on several aspects of the phenotype of the DNA source (e.g., [13], [14], [15] and [16]). The standard forensic STRPs provide no useful information on ancestry or phenotype. Haplotyped SNPs allow more PLX-4720 mw efficient inference of family relationships [17] on a per locus basis because they constitute multiallelic loci, analogous to the STRPs. Research on forensic uses of SNPs is ongoing to find sets of SNPs excellent for each purpose and to provide the population databases to allow accurate statistical interpretation of the results (e.g., [18], [19] and [20]). The current state of high throughput DNA sequencing technology has been referred to as NGS, standing for “Next Generation Sequencing”; today the abbreviation is better

thought of as standing for “Now Generation Lepirudin Sequencing”. The speed, accuracy, and read lengths currently available require that forensics consider this methodology. All of the types of SNP panels noted above can be genotyped by sequencing and all types can be pooled to give a collection of SNPs addressing all major forensic DNA questions in one laboratory analysis. For many reasons we believe that focusing on haplotypes is the best approach to maximizing the information obtained by sequencing. Haplotype systems based on multiple SNPs that are closely linked have been advocated in recent years [17], [21], [22] and [23] as the optimal type of forensically useful DNA marker for family or lineage inference. They are also very useful in anthropology for population relationships [17], [24] and [25]. SNPs that are molecularly very close will have extremely low recombination rates, but can still define multiple haplotypes, creating a multi-allelic locus, with heterozygosity depending on the history of the accumulation of the variants at the different sites, the occurrence historically of rare crossovers, the vagaries of random genetic drift, and/or selection. Those DNA sequencing platforms that provide continuous runs of a hundred base pairs or more on a single DNA molecule directly determine the phase of the multiple SNPs within the small DNA segment.