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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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DNA identification of compromised samples with massive parallel sequencing.

Andreas Tillmar1,2, Ida Grandell1, Kerstin Montelius1

  • 1Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.

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|February 1, 2020
PubMed
Summary
This summary is machine-generated.

Massive parallel sequencing (MPS) aids human identification from degraded remains in mass disasters. While promising for forensic DNA analysis, further standardization is needed for reliable international comparisons.

Keywords:
Forensic scienceSNPdisaster victim identificationforensic geneticsmass disastermassive parallel sequencing

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Area of Science:

  • Forensic Science
  • Genetics
  • Molecular Biology

Background:

  • Genetic profiling is crucial for human identification in criminal cases and mass disasters, aiding victim repatriation.
  • Current DNA techniques are effective but struggle with degraded samples common after catastrophes.
  • International collaboration is vital due to the diverse nationalities involved in mass fatality incidents.

Purpose of the Study:

  • To evaluate a Massive Parallel Sequencing (MPS) method using 131 SNP markers for identifying victims from compromised samples.
  • To compare MPS results with direct reference material or relatives' DNA.
  • To assess the statistical weight of evidence for matches and compare inter-platform results.

Main Methods:

  • Analysis of 10 missing person identification cases using an MPS platform with 131 SNP markers.
  • Comparison of generated DNA profiles against direct reference or familial DNA samples.
  • Statistical calculation of match probabilities and inter-platform result comparison.

Main Results:

  • The MPS method successfully generated DNA profiles from challenging samples.
  • Statistical analysis provided weight of evidence for identification matches.
  • Variations were observed when comparing results from different platforms and SNP panels.

Conclusions:

  • MPS is a valuable tool for forensic DNA profiling, especially with degraded samples.
  • Standardization of MPS methods and SNP panels across laboratories is essential for reliable international identification efforts.
  • Further research is required to ensure full comparability of results in missing person identification cases.