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Preparing for shotgun sequencing in forensic genetics - Benchmarking of tools for read mapping, genotype calling, and imputation.

Forensic science international. Genetics - 1 Jun 2026

Jepsen Alberte Honoré, Poggiali Brando, Jensen Martin Tuwel, Kling Daniel, Zavala Elena I, Børsting Claus, Andersen Jeppe Dyrberg, Tillmar Andreas, Kampmann Marie-Louise

Abstract excerpt

Shotgun sequencing has emerged as a powerful tool in forensic genetics, as it allows for comprehensive genetic profiles to be generated from highly degraded DNA. The method enables simultaneous access to a wide range of markers, thereby supporting applications such as human identification (HID), DNA intelligence, and forensic investigative genetic genealogy (FIGG). However, the accuracy and utility of shotgun...

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PMID: 41997048
DOI: 10.1016/j.fsigen.2026.103505

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