Forensic DNA analysis often struggles with mixed samples, especially when one contributor’s DNA is minimal. This study introduces DIP-STRs (Deletion/Insertion Polymorphisms paired with Short Tandem Repeats), novel genetic markers that excel at identifying minor DNA contributors in highly unbalanced mixtures. Using whole-genome sequencing data from over 76,000 human genomes, researchers identified and validated 23 new DIP-STR markers. These markers demonstrated exceptional sensitivity, detecting minor contributors in mixtures with major-to-minor ratios exceeding 500:1. Swiss population data confirmed their variability and applicability. The study proposes a panel of 30 DIP-STR markers for further development, with potential uses in forensic cases and non-invasive prenatal testing. These markers enhance forensic tools, enabling more precise and sensitive DNA profiling and paving the way for advanced multiplex assays using both traditional and next-generation sequencing. This breakthrough promises to refine forensic investigations, ensuring reliable analysis even in complex cases.
For more information, see the published paper.
