Whole Genome Sequencing and forensics genomics
Advances in the massively parallel sequencing will increase the availability of human whole genome sequences. These are being produced by national and international initiatives, healthcare projects, research projects, and even direct-to-consumer genomics companies. This report aims to evaluate the potential impacts, in the field of forensics, of the information generated by whole genome sequencing and the large-scale availability of whole genome sequences.
Thus, this report provides a state of the art of use of large databases of human genome sequences to identify:
The donor of a given genome sequence, mostly in the context of wanted or missing persons.
The physical characteristics of the genome sequence donor, including medical conditions.
The report starts with the definition of the genotyping target, the human genome, and the description of the genotyping methods to analyse it, including massively parallel sequencing. It proceeds with a description of the forensic genetics work processes, quality issues, and logical evidence interpretation. Then, it tackles DNA as Big Data that enables genealogical, biogeographical, phenotypic, and health searches and that requires informed consent and safeguarding against privacy breaches. It then depicts the Prüm Convention as a current model of forensic use of genetic data in European countries. Finally, the report summarizes findings and concerns, and provides final recommendations.
ANGERS Alexandre;
DRABEK Jiri;
FABBRI Marco;
PETRILLO Mauro;
QUERCI Maddalena;
2021-08-02
Publications Office of the European Union
JRC125734
978-92-76-40265-7 (online),
1831-9424 (online),
EUR 30766 EN,
OP KJ-NA-30766-EN-N (online),
https://publications.jrc.ec.europa.eu/repository/handle/JRC125734,
10.2760/864087 (online),
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