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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Evaluation of a microhaplotypes panel for forensic genetics using massive parallel sequencing technology.

Chiara Turchi1, Filomena Melchionda1, Mauro Pesaresi1

  • 1Section of Legal Medicine, Department of Excellence of Biomedical Sciences and Public Health, Polytechnic University of Marche, Ancona, Italy - Via Tronto, 60126, Torrette, Ancona (AN), Italy.

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|May 10, 2019
PubMed
Summary

Massive parallel DNA sequencing enables microhaplotypes (microhaps) for forensic genetics. A study of 87 microhaps in 100 Italians confirmed their utility for identification and mixture deconvolution, with specific loci showing high discriminatory power.

Keywords:
Individual identificationMassive parallel sequencingMatching probability.MicrohaplotypesMixture deconvolutionSingle nucleotide polymorphisms

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Area of Science:

  • Forensic Genetics
  • Population Genetics
  • Molecular Biology

Background:

  • Massive parallel DNA sequencing (MPS) facilitates the use of microhaplotypes (microhaps) as novel genetic markers.
  • Microhaps are increasingly valuable in forensic applications, including identification, kinship analysis, ancestry prediction, and DNA mixture deconvolution.

Purpose of the Study:

  • To evaluate the genetic variation of microhaplotype loci in an Italian population using MPS.
  • To infer the utility of a selected set of microhaps for forensic genetic applications, particularly mixture deconvolution and relationship resolution.

Main Methods:

  • Selection of 89 microhaplotype loci from the ALFRED database.
  • Genotyping of 100 Italian individuals using MPS.
  • Analysis of genotype and haplotype frequencies, and estimation of the effective number of alleles (Ae) for each locus.
  • Inference of mixture detection probabilities based on Ae values and calculation of individual matching probabilities (PI).

Main Results:

  • A panel of 87 microhaps, comprising 266 SNPs across 22 autosomes, was finalized after MPS.
  • The effective number of alleles (Ae) ranged from 1.010 to 8.344, with 80% of loci showing Ae > 2.0.
  • A subset of 32 microhaps with Ae > 3.0 demonstrated high probability for mixture detection (≥0.99973) and a cumulative PI of 1.6 × 10-33.

Conclusions:

  • The evaluated microhaplotype set is highly informative for forensic genetic analyses in the Italian population.
  • Microhaplotypes, especially those with higher Ae values, are powerful tools for resolving complex forensic cases, including DNA mixture deconvolution.
  • The study confirms the significant utility of microhaplotypes in advancing forensic genetics.