Analysis of complex DNA mixtures using massively parallel sequencing of SNPs with low minor allele frequencies
| Autor: | Darrell O. Ricke, Martha S. Petrovick, James Watkins, Philip Fremont-Smith, Eric Schwoebel, Chelsea Peragallo, Tara Boettcher |
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| Rok vydání: | 2020 |
| Předmět: |
Forensic Genetics
0301 basic medicine Single-nucleotide polymorphism Computational biology Biology Polymorphism Single Nucleotide Pathology and Forensic Medicine 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Capillary electrophoresis Gene Frequency Genetics False positive paradox Humans SNP 030216 legal & forensic medicine Alleles Massive parallel sequencing High-Throughput Nucleotide Sequencing DNA DNA Fingerprinting Minor allele frequency 030104 developmental biology chemistry Touch Detection rate |
| Zdroj: | Forensic Science International: Genetics. 46:102234 |
| ISSN: | 1872-4973 |
| DOI: | 10.1016/j.fsigen.2020.102234 |
| Popis: | DNA mixtures from 3 or more contributors have proven difficult to analyze using the current state-of-the-art method of short-tandem repeat (STR) amplification followed by capillary electrophoresis (CE). Here we analyze samples from both laboratory-defined mixtures and complex multi-contributor touch samples using a single nucleotide polymorphism (SNP) panel comprised of 2311 low-minor-allele-frequency loci, combined with massively parallel sequencing (MPS). This approach demonstrates that as many as 10 people can be identified in touch samples using a threshold of -Log P(RMNE) of 6, and a detection rate of 18-94 % across 10 different materials using a threshold of -Log P(RMNE) of 2. Thirty-two false positives were observed in 100 touch samples. |
| Databáze: | OpenAIRE |
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