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Updated: May 21, 2025

Enhanced Genetic Analysis of Single Human Bioparticles Recovered by Simplified Micromanipulation from Forensic ‘Touch DNA’ Evidence
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Forensic investigative genetic genealogy using genotypes generated or imputed from transcriptomes.

Daniel Kling1, Alberte Honoré Jepsen2, Marie-Louise Kampmann2

  • 1Department of Forensic Sciences, Oslo University Hospital, Oslo, Norway; Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden; Biostatistics (BIAS), Norwegian University of Life Sciences, Ås, Norway.

Forensic Science International. Genetics
|March 23, 2025
PubMed
Summary

Transcriptome sequencing offers new forensic genetics applications. This study shows RNA analysis can infer distant familial relationships for forensic investigative genetic genealogy (FIGG), reliably classifying relatives up to second cousins.

Keywords:
Forensic investigative genetic genealogySNPsShotgun RNA sequencingWhole transcriptome sequencing

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Area of Science:

  • Forensic Genetics
  • Transcriptomics
  • Population Genetics

Background:

  • Transcriptome analysis is increasingly valuable in forensic genetics.
  • It provides genetic and contextual information for applications like body fluid identification.
  • Whole transcriptome sequencing offers substantial single nucleotide polymorphism (SNP) coverage.

Purpose of the Study:

  • To explore RNA's utility for forensic investigative genetic genealogy (FIGG).
  • To assess the inference of distant familial relationships using transcriptome data.
  • To evaluate the impact of SNP coverage from transcriptome sequencing on relationship inference.

Main Methods:

  • Simulated genetic data for relationships from first-degree to seventh-degree relatives.
  • Reduced SNP genotypes to loci covered by whole blood transcriptome sequencing.
  • Utilized observed and imputed SNP genotypes for analysis.

Main Results:

  • Reliable classification of relatives up to second cousins was achieved using an average of 99,548 SNPs.
  • Quality control thresholds minimized erroneous genotype calls.
  • Minor genotype errors had minimal impact on relationship inference accuracy.

Conclusions:

  • Presents a proof-of-concept for using transcriptome-based genotypes in FIGG.
  • Demonstrates the potential of combining transcriptome data with imputed genotypes for relationship inference.
  • Highlights transcriptome sequencing as a viable tool for extending forensic genetic capabilities.