- •Evaluation experiments demonstrate that the HID-Ion AmpliSeq™ Identity Panel is a well-performed, robust, reliable and high informative NGS-SNP assay.
- •Some underperformed loci were identified including strand bias, low locus coverage, heterozygote imbalance and high background signals.
- •Full profile could be obtained from as low as 100 pg input DNA. Compared with STR assays, this panel gives prominence to advantage on detection to degraded sample.
- •FST across all 90 autosomal SNP loci showed no significant difference between Southern and Northern Chinese Han or between male and female samples.
- •Forensic parameters for A-SNPs were calculated as >99.999% (CDP), 0.999999724 (CPE), 1.390 × 1011 (CLR of trios) and 2.361 × 106 (CLR of duos). HD for Y-SNPs was equal to 0.684.
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- Advanced Topics in Forensic DNA Typing: Methodology.Academic Press, Boston2011
- Kinship analysis with diallelic SNPs—experiences with the SNPforID multiplex in an ISO17025 accredited laboratory.Transfus. Med. Hemother. 2012; 39: 195-201
- Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America.Hum. Mutat. 2009; 30: 69-78
- The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA.Forensic Sci. Int. Genet. 2013; 7: 98-115
- Forensically relevant SNP classes.Biotechniques. 2008; 44 (610): 603-608
- Rapid mitochondrial DNA typing using restriction enzyme digestion of polymerase chain reaction amplicons followed by capillary electrophoresis separation with laser-induced fluorescence detection.Electrophoresis. 1998; 19: 119-124
- Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis.Electrophoresis. 1997; 18: 682-685
- Report of the blind trial of the Cetus Amplitype HLA DQ alpha forensic deoxyribonucleic acid (DNA) amplification and typing kit.J. Forensic Sci. 1991; 36: 1551-1556
- Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing.Genomics. 1996; 34: 107-113
- Allelic discrimination using fluorogenic probes and the 5' nuclease assay.Genet. Anal. 1999; 14: 143-149
- High-throughput polymorphism screening and genotyping with high-density oligonucleotide arrays.Genet. Anal. 1999; 14: 187-192
- Current genetic methodologies in the identification of disaster victims and in forensic analysis.J. Appl. Genet. 2012; 53: 41-60
- A multiplex assay with 52 single nucleotide polymorphisms for human identification.Electrophoresis. 2006; 27: 1713-1724
Affymetrix Inc., Affymetrix® Human SNP Assay 6.0 User Guide for Automated Target Preparation, P/N 702561, Rev. 1, Affymetrix Inc., Santa Clara, (2008).
- Reprint of: evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM).Forensic Sci. Int. Genet. 2013; 7: 632-639
- High-quality and high-throughput massively parallel sequencing of the human mitochondrial genome using the Illumina MiSeq.Forensic Sci. Int. Genet. 2014; 12: 128-135
- Strategies for complete mitochondrial genome sequencing on Ion Torrent PGM™ platform in forensic sciences.Forensic Sci. Int. Genet. 2016; 22: 11-12
- High-throughput sequencing of core STR loci for forensic genetic investigations using the Roche Genome Sequencer FLX platform.Biotechniques. 2011; 51: 127-133
- Evaluation of the Early access STR Kit v1 on the Ion Torrent PGM™ platform.Forensic Sci. Int. Genet. 2016; 23: 111-120
- Evaluation of the Illumina® Beta Version ForenSeq™ DNA Signature Prep Kit for use in genetic profiling.Forensic Sci. Int. Genet. 2016; 20: 20-29
- Simultaneous analysis of hundreds of Y-chromosomal SNPs for high-resolution paternal lineage classification using targeted semiconductor sequencing.Hum. Mutat. 2015; 36: 151-159
- Single nucleotide polymorphism typing with massively parallel sequencing for human identification.Int. J. Legal Med. 2013; 127: 1079-1086
- Evaluation of the Ion Torrent™ HID SNP 169-plex: a SNP typing assay developed for human identification by second generation sequencing.Forensic Sci. Int. Genet. 2014; 12: 144-154
- Inter-laboratory evaluation of SNP-based forensic identification by massively parallel sequencing using the Ion PGM™.Forensic Sci. Int. Genet. 2015; 17: 110-121
- Performance of a next generation sequencing SNP assay on degraded DNA.Forensic Sci. Int. Genet. 2015; 19: 1-9
- SNPs for a universal individual identification panel.Hum. Genet. 2010; 127: 315-324
Scientific Working Group on DNA Analysis Methods (SWGDAM), Validation Guidelines for DNA Analysis Methods, SWGDAM, 2012. Available at: http://swgdam.org/SWGDAM_Validation_Guidelines_APPROVED_Dec_2012.pdf.
Thermo Fisher Scientific, Ion AmpliSeq™ Library Preparation for Human Identification Applications, P/N MAN0010640, Rev. A.0, Thermo Fisher Scientific, Massachusetts. (2014).
Thermo Fisher Scientific, Ion PGM™ Template OT2 200 Kit for use with the Ion OneTouch™ 2 System, P/N MAN0007220, Rev. A.0, Thermo Fisher Scientific, Massachusetts. (2014).
Thermo Fisher Scientific, Ion PGM™ Sequencing 200 Kit v2, P/N MAN0007273, Rev. 3.0, Thermo Fisher Scientific, Massachusetts. (2013).
- Integrative genomics viewer.Nat. Biotechnol. 2011; 29: 24-26
- Haploview: analysis and visualization of LD and haplotype maps.Bioinformatics. 2005; 21: 263-265
J. Goudet, FSTAT, a program to estimate and test gene diversities and fixation indices (version 2.9.3), 2001. Available at http://www2.unil.ch/popgen/softwares/fstat.htm.
- Inference of population structure using multilocus genotype data.Genetics. 2000; 155: 945-959
- Tools for analysis of population statistics.Profiles DNA. 1999; 3: 14-16
- Population genetics for 17 Y-STR loci in Korean ethnic minority from Liaoning Province, Northeast China.Forensic Sci. Int. Genet. 2016; 22: e9-e11
International Society of Genetic Genealogy (ISOGG), Y-DNA Haplogroup Tree 2016, Version: 11.16, Date: 17 January 2016, ISOGG, 2016. Available at: http://www.isogg.org/tree/.
R Core Team, R: A language and environment for statistical computing, R Foundation for Statistical Computing, Vienna, Austria. (2015). Available at: http://www.R-project.org/.
- Beyond traditional paternity and identification cases. Selecting the most probable pedigree.Forensic Sci. Int. 2000; 110: 47-59
Illumina, ForenSeq™ DNA Signature Prep Guide, P/N 15049528, Rev. C, Illumina, San Diego. (2015).
Thermo Fisher Scientific, HID SNP Genotyper Plugin Version 4.3.1. P/N MAN0010641 Rev. B.0, Thermo Fisher Scientific, Massachusetts. (2015).
National Research Council (NRCII) Committee on DNA Forensic Science, The evaluation of forensic DNA evidence, National Academy Press Washington (1996).
- Molecular genetics of the Finnish disease heritage.Hum. Mol. Genet. 1999; 8: 1913-1923
- An assessment of the utility of single nucleotide polymorphisms (SNPs) for forensic purposes.Int. J. Legal Med. 2001; 114: 204-210
- Taiwan Y-chromosomal DNA variation and its relationship with Island Southeast Asia.BMC Genet. 2014; 26: 15-77
- Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes.Eur. J. Hum. Genet. 2005; 13: 867-876
- Peopling of the North circumpolar region—insights from Y Chromosome STR and SNP typing of Greenlanders.PLoS ONE. 2015; 10: e0116573