HIrisPlex-S system for eye, hair, and skin color prediction from DNA: Massively parallel sequencing solutions for two common forensically used platforms

HIrisPlex-S system for eye, hair, and skin color prediction from DNA: Massively parallel sequencing solutions for two common forensically used platforms

Highlights•Forensic DNA phenotyping using the HIrisPlex-S system & Massive Parallel Sequencing. •HPS assay validation on ThermoFisher Scientific Ion Torrent PGM & Illumina MiSeq. •Semi-automated pipeline for genotype extraction of HPS variants from sequence data. •Mixture threshold & dec...

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Veröffentlicht in:Forensic science international : genetics 2019-11, Vol.43, p.102152-102152, Article 102152
Hauptverfasser: Breslin, Krystal, Wills, Bailey, Ralf, Arwin, Ventayol Garcia, Marina, Kukla-Bartoszek, Magdalena, Pospiech, Ewelina, Freire-Aradas, Ana, Xavier, Catarina, Ingold, Sabrina, de La Puente, Maria, van der Gaag, Kristiaan J, Herrick, Noah, Haas, Cordula, Parson, Walther, Phillips, Christopher, Sijen, Titia, Branicki, Wojciech, Walsh, Susan, Kayser, Manfred
Format: Artikel
Sprache:eng
Schlagworte:
Animals
Bioinformatics pipeline
DNA - genetics
Eye color
Eye Color - genetics
Forensic developmental validation
Forensic DNA phenotyping
Genotype
Genotyping Techniques - instrumentation
Hair color
Hair Color - genetics
High-Throughput Nucleotide Sequencing - methods
HIrisplex-S
Humans
Ion torrent
Massively parallel sequencing
MiSeq
Pathology
Phenotype
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Skin color
Skin Pigmentation - genetics
Species Specificity
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Zusammenfassung:Highlights•Forensic DNA phenotyping using the HIrisPlex-S system & Massive Parallel Sequencing. •HPS assay validation on ThermoFisher Scientific Ion Torrent PGM & Illumina MiSeq. •Semi-automated pipeline for genotype extraction of HPS variants from sequence data. •Mixture threshold & deconvolution tool for implementing guidelines in SNP genotyping. •Separating 2-person mixtures to single HPS profiles using scenario-based calculations.
ISSN:1872-4973
1878-0326
DOI:10.1016/j.fsigen.2019.102152