Application of massively parallel sequencing (MPS) in paternity testing - case report.
Aim of the study: We present the application of massively parallel sequencing (MPS) to extend the scope of analysis in a disputed paternity case. Material and methods: A standard paternity test comprising 16 autosomal STRs was performed by capillary electrophoresis (CE) using 3130xl Genetic Analyzer. Additionally, MPS was performed with ForenSeq DNA Signature Prep Kit and Illumina MiSeq FGx™ Forensic Genomics System. Paternity index (PI) was calculated using DNAStat v.2.1 software. Results>: CE revealed two mismatches, at D21S11 and VWA, between the putative father and the child. Based on MPS results, the mismatches were analyzed and a nonconsensus sequence of allele 14 at the VWA locus in the mother - child pair was identified. Different sequence variants were also detected in 16-16 homozygote alleles at the D3S1358 locus in the child. Conclusions: MPS helped to formulate a definite conclusion regarding the paternity of the defendant and provided full information on intra-allelic polymorphism.
['Kostrzewa|Grażyna|G|', 'Konarzewska|Magdalena|M|', 'Pepiński|Witold|W|']
D002648:Child D016172:DNA Fingerprinting D005260:Female D059014:High-Throughput Nucleotide Sequencing D006801:Humans D008297:Male D010334:Paternity D020641:Polymorphism, Single Nucleotide D017422:Sequence Analysis, DNA
paternity testing DNA MiSeq FGx ™ intra-allelic polymorphism