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Identifying distant relatives using benchtop-scale sequencing.

August E Woerner1, Nicole M Novroski2, Sammed Mandape3

  • 1Center for Human Identification, University of North Texas Health Science Center, Fort Worth, TX, USA; Department of Microbiology, Immunology and Genetics, University of North Texas Health Science Center, Fort Worth, TX, USA.

Forensic Science International. Genetics
|January 3, 2024
PubMed
Summary
This summary is machine-generated.

Forensic genetic genealogy (FGG) can now identify relatives up to 7th degree using low-pass sequencing on desktop sequencers. This cost-effective method enhances kinship analysis for identifying persons of interest.

Keywords:
Genetic genealogyGenotype imputationKinshipLow pass sequencingMassively parallel sequencing

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Area of Science:

  • Genetics
  • Forensic Science
  • Bioinformatics

Background:

  • Forensic genetic genealogy (FGG) uses genome-wide kinship estimates to identify individuals.
  • Current FGG methods are costly, requiring specialized equipment like microarrays or high-throughput sequencing.
  • Targeted PCR assays on common benchtop sequencers offer limited kinship resolution.

Purpose of the Study:

  • To evaluate low-pass sequencing as a cost-effective and accessible alternative for FGG.
  • To assess the resolution of low-pass sequencing for inferring kinship relationships.
  • To determine if desktop sequencers can achieve comparable kinship resolution to high-pass sequencing.

Main Methods:

  • Utilized low-pass whole genome sequencing on samples from a three-generation pedigree.
  • Augmented samples with simulated 7th-degree relatives.
  • Assessed kinship coefficient recovery using algorithms similar to those in GEDmatch.

Main Results:

  • Low-pass sequencing reliably inferred kinship up to 7th degree relatives.
  • The method is compatible with commonly available desktop sequencers.
  • Achieved resolutions comparable to high-pass sequencing methods.

Conclusions:

  • Low-pass sequencing is a viable and accessible strategy for forensic genetic genealogy.
  • This approach can significantly reduce costs associated with FGG.
  • Enables reliable identification of distant relatives using standard laboratory equipment.