Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Increasing the number of contributors identified by SNP panels

Version 1 : Received: 23 February 2024 / Approved: 26 February 2024 / Online: 26 February 2024 (10:54:28 CET)

How to cite: Ricke, D. Increasing the number of contributors identified by SNP panels. Preprints 2024, 2024021431. https://doi.org/10.20944/preprints202402.1431.v1 Ricke, D. Increasing the number of contributors identified by SNP panels. Preprints 2024, 2024021431. https://doi.org/10.20944/preprints202402.1431.v1

Abstract

Analysis of complex DNA mixtures is limited by the selected genetic markers characterized and assay technology. Small panels of short tandem repeats (STRs) are the current standards in most countries. Extension of STRs with hundreds of single nucleotide polymorphisms (SNPs) is now commercially available. The current set of extension SNPs focus on phenotypic and biogeographic ancestry informative SNPs. Larger panels with thousands of SNPs have been developed that can identify up to 10 contributors to forensic DNA samples. Herein, multiple sets of SNPs were selected with the focus of increasing the upper limit of detectable contributors. Larger SNP panel sets with lower minor allele frequency (MAF) alleles can detect large numbers of contributors to in silico mixtures of randomly selected profiles from the 1,000 Genomes project. These results provide a path to enable characterization of complex DNA mixtures that are currently impossible to analyse.

Keywords

DNA mixture; single nucleotide polymorphism; mixture analysis; high throughput sequencing; massively parallel sequencing; SNP panels

Subject

Biology and Life Sciences, Other

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