Forensic Genomics


Application of genetics to forensics has been multifactorial, that is analysing various inherited characteristics (genes or gene products) in the same court case. However, only when DNA fast and cheap sequencing technologies became available can we speak of forensic genomics proper, that is the use of genome‐wide data to forensic applications. These advances allow a significant increase in the informative power of classical forensic analyses and open new application avenues that were unthinkable when a reduced amount of genetic markers was at hand. These include the assessment and inference of remote kinship, biogeographic ancestry, and physical appearance. However, these developments still face serious problems, which may be difficult to resolve, or seriously conflict social and individual rights. In fact, full use of forensic genomics face statistical, technical, theoretical, ethical and legal obstacles, which may remain insurmountable in the near future.

Key Concepts

  • Science applied to forensics produces and evaluates evidence in criminal or civil litigations at a formal judicial system.
  • Forensic genetics and genomics are increasingly contributing to the prevention of litigation, alleviating court workloads.
  • Current litigation fields involving genetic expertise are much broader than traditional legal medicine and include the use of nonhuman material.
  • DNA technology has contributed significantly to the expansion and precision of FG.
  • Forensic application of genome‐wide data is loaded with ethical, technical, theoretical and problems.

Keywords: genetics; genomics; forensics; population genetics; DNA


Altman N and Krzywinski M (2018) The curse(s) of dimensionality. Nature Methods 15: 399–400.

Amorim A and Budowle B (2016) Definition and purpose. In: Amorim A and Budowle B (eds) Handbook of Forensic Genetics: Biodiversity and Heredity in Civil and Criminal Investigation, pp 1–12.

Amorim A and Pinto N (2018) Big data in forensic genetics. Forensic Science International. Genetics 37: 102–105.

Anonymous (2007) Launching Forensic Science International daughter journal in 2007: Forensic Science International: Genetics. Forensic Science International. Genetics 1: 1–2.

Arenas M, Pereira F, Oliveira M, et al. (2017) Forensic genetics and genomics: Much more than just a human affair. PLoS Genetics 13: e1006960. DOI: 10.1371/journal.pgen.1006960.

Bär W, Brinkmann B, Lincoln P, et al. (1992) Recommendations of the DNA Commission of the International Society for Forensic Haemogenetics relating to the use of PCR‐based polymorphisms. Forensic Science International 55: 1–3.

Belk A, Xu ZZ, Carter DO, et al. (2018) Microbiome data accurately predicts the postmortem interval using random forest regression models. Genes (Basel) 9. DOI: 10.3390/genes9020104.

Bowen CD, Renner DW, Shreve JT, et al. (2016) Viral forensic genomics reveals the relatedness of classic herpes simplex virus strains KOS, KOS63, and KOS79. Virology 492: 179–186. DOI: 10.1016/j.virol.2016.02.013.

Bradbury C, Köttgen A and Staubach F (2019) Off‐target phenotypes in forensic DNA phenotyping and biogeographic ancestry inference: A resource. Forensic Science International. Genetics 38: 93–104. DOI: 10.1016/j.fsigen.2018.10.010.

Buchanan N, Staubach F, Wienroth M, et al. (2018) Forensic DNA phenotyping legislation cannot be based on “Ideal FDP”‐A response to Caliebe, Krawczak and Kayser (2017). Forensic Science International. Genetics 34: e13–e14. DOI: 10.1016/j.fsigen.2018.01.009.

Butler JM (2006) Genetics and genomics of core short tandem repeat loci used in human identity testing. Journal of Forensic Sciences 51: 253–265. DOI: 10.1111/j.1556‐4029.2006.00046.x.

Crow JF (1993) Felix Bernstein and the first human marker locus. Genetics 133: 4–7.

De Wit P, Rogers‐Bennett L, Kudela RM and Palumbi SR (2014) Forensic genomics as a novel tool for identifying the causes of mass mortality events. Nature Communications 16: 3652. DOI: 10.1038/ncomms4652.

Debus‐Sherrill S and Field MB (2019) Familial DNA searching‐ an emerging forensic investigative tool. Science & Justice 59: 20–28. DOI: 10.1016/j.scijus.2018.07.006.

Fang C, Zhao J, Liu X, et al. (2019) MicroRNA profile analysis for discrimination of monozygotic twins using massively parallel sequencing and real‐time PCR. Forensic Science International. Genetics 38: 23–31. DOI: 10.1016/j.fsigen.2018.09.011.

Forat S, Huettel B, Reinhardt R, et al. (2016) Methylation markers for the identification of body fluids and tissues from forensic trace evidence. PLoS ONE 11: e0147973. DOI: 10.1371/journal.pone.0147973.

Greytak EM, Kaye DH, Budowle B, et al. (2018) Privacy and genetic genealogy data. Science 361: 857. DOI: 10.1126/science.aav0330.

Harbison, Corey (2016) ABO Blood Type Identification and Forensic Science (1900–1960). Embryo Project Encyclopedia (2016‐06‐02). ISSN: 1940‐5030.

Hovet K (2018) Selling Yourself? These companies Want to Pay for Your Genetic Information. Genetic Literacy Project (October 24, 2018).‐yourself‐these‐companies‐want‐to‐pay‐for‐your‐genetic‐information/

Khan R and Mittelman D (2018) Consumer genomics will change your life, whether you get tested or not. Genome Biology 19: 120. DOI: 10.1186/s13059‐018‐1506‐1.

Kim J, Edge MD, Algee‐Hewitt BFB, Li JZ and Rosenberg NA (2018) Statistical detection of relatives typed with disjoint forensic and biomedical loci. Cell 175: 848–858.e6. DOI: 10.1016/j.cell.2018.09.008.

Kayser M and de Knijff P (2011) Improving human forensics through advances in genetics, genomics and molecular biology. Nature Reviews. Genetics 12: 179–192. DOI: 10.1038/nrg2952.

Kayser M and Parson W (2018) Transitioning from forensic genetics to forensic genomics. Genes (Basel) 9: 3. DOI: 10.3390/genes9010003.

Kuska B (1998) Beer, Bethesda, and biology: how “genomics” came into being. Journal of the National Cancer Institute 90: 93. DOI: 10.1093/jnci/90.2.93.

McKusick VA and Ruddle FH (1987) A new discipline, a new name, a new journal. Genomics 1: 1–2.

Murphy E (2018) Law and policy oversight of familial searches in recreational genealogy databases. Forensic Science International 292: e5–e9. DOI: 10.1016/j.forsciint.2018.08.027.

Naveed M, Ayday E, Clayton EW, et al. (2015) Privacy in the genomic era. ACM Computing Surveys 48. DOI: 10.1145/2767007.

Oliveira M and Amorim A (2018) Microbial forensics: new breakthroughs and future prospects. Applied Microbiology and Biotechnology 102: 10377–10391. DOI: 10.1007/s00253‐018‐9414‐6.

Parson W, Ballard D, Budowle B, et al. (2016) Massively parallel sequencing of forensic STRs: Considerations of the DNA commission of the International Society for Forensic Genetics (ISFG) on minimal nomenclature requirements. Forensic Science International: Genetics 22: 54–63.

Phillips C (2018) The Golden State Killer investigation and the nascent field of forensic genealogy. Forensic Science International. Genetics 36: 186–188. DOI: 10.1016/j.fsigen.2018.07.010.

Ray DA, Walker JA and Batzer MA (2007) Mobile element‐based forensic genomics. Mutation Research 616: 24–33. DOI: 10.1016/j.mrfmmm.2006.11.019.

Samuel G and Prainsack B (2018) Forensic DNA phenotyping in Europe: views “on the ground” from those who have a professional stake in the technology. New Genetics and Society. DOI: 10.1080/14636778.2018.1549984.

Stajano F, Bianchi L, Liò P, Korff D (2008) Forensic Genomics: Kin Privacy, Driftnets and Other Open Questions. WPES '08 Proceedings of the 7th ACM workshop on Privacy in the electronic society, pp 15–22. DOI: 10.1145/1456403.1456407.

Syndercombe Court D (2018) Forensic genealogy: some serious concerns. Forensic Science International. Genetics 36: 203–204. DOI: 10.1016/j.fsigen.2018.07.011.

Vidaki A and Kayser M (2018) Recent progress, methods and perspectives in forensic epigenetics. Forensic Science International. Genetics 37: 180–195. DOI: 10.1016/j.fsigen.2018.08.008.

Williams G (2018) The emerging field of forensic epigenetics. Forensic Science International 290: e24–e25. DOI: 10.1016/j.forsciint.2018.07.019.

Further Reading

Amorim A and Budowle B (2016) Handbook of Forensic Genetics: Biodiversity and Heredity in Civil and Criminal Investigation. World Scientific: Hackensack, NJ. DOI: 10.1142/q0023.

Carracedo A (2017) From Hemogenetics to Forensic Genomics. In: Ferrara S (ed.) Medicine and Justice, p P5. Springer: Cham. DOI: 10.1007/978‐3‐319‐67092‐8_28.

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Amorim, Antonio(Jun 2019) Forensic Genomics. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0026714]