Whole Genome Sequencing and forensics genomics Angers, A., Drabek, J., Fabbri, M., Petrillo, M. and Querci, M. 2021 EUR 30766 EN This publication is a Technical report by the Joint Research Centre (JRC), the European Commission’s science and knowledge service. It aims to provide evidence-based scientific support to the European policymaking process. The scientific output expressed does not imply a policy position of the European Commission. Neither the European Commission nor any person acting on behalf of the Commission is responsible for the use that might be made of this publication. For information on the methodology and quality underlying the data used in this publication for which the source is neither Eurostat nor other Commission services, users should contact the referenced source. The designations employed and the presentation of material on the maps do not imply the expression of any opinion whatsoever on the part of the European Union concerning the legal status of any country, territory, city or area or of its authorities, or concerning the delimitation of its frontiers or boundaries. Contact information Name: Maddalena Querci Address: Via E. Fermi, 2749 I-21027 Ispra (VA), Italy Email: [email protected] Tel.: +39 033278-9308 EU Science Hub https://ec.europa.eu/jrc JRC125734 EUR 30766 EN PDF ISBN 978-92-76-40265-7 ISSN 1831-9424 doi:10.2760/864087 Luxembourg: Publications Office of the European Union, 2021 © European Union, 2021 The reuse policy of the European Commission is implemented by the Commission Decision 2011/833/EU of 12 December 2011 on the reuse of Commission documents (OJ L 330, 14.12.2011, p. 39). 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All content © European Union, 2021, except: Cover image: ©Tarlila - stock.adobe.com Figures 2, 3, 4, 5 and 6: Author: Halina Šimková (https://www.slideserve.com/ronni/slide-pool-forenzn-genetiky-roz-en-soubor-obrazov-ch- sch-mat-k-publikaci) Figure 9: Source: MyHeritage (adapted and used by authors with the permission of the owner) Figure 10: adapted by authors with the permission of the author Latanya Sweeney, (https://thedatamap.org/map2013/index.php) Figure 11: Source: https://www.statista.com/chart/20566/personal-data-breaches-notified-per-eea-jurisdiction/ How to cite this report: Angers, A., Drabek, J., Fabbri, M., Petrillo, M. and Querci, M., Whole Genome Sequencing and forensics genomics, EUR 30766 EN, Publications Office of the European Union, Luxembourg, 2021, ISBN 978-92-76-40265-7, doi:10.2760/864087, JRC125734. Contents Abstract .............................................................................................................................................................................................................................................................. 4 1 Nucleic acids as the genotyping target ......................................................................................................................................................................... 5 1.1 Nuclear and mitochondrial genome .................................................................................................................................................................... 5 1.2 Ways of genetic information transfer ............................................................................................................................................................... 5 1.3 DNA as differentiation marker ................................................................................................................................................................................. 8 1.4 Human transcriptome ...................................................................................................................................................................................................... 9 1.5 Human epigenome ............................................................................................................................................................................................................. 9 1.6 Human microbiome ........................................................................................................................................................................................................ 10 2 Technology of genotyping ...................................................................................................................................................................................................... 11 2.1 DNA profiling by STR genotyping ........................................................................................................................................................................ 11 2.2 DNA genotyping by microarray chips .............................................................................................................................................................. 12 2.3 DNA genotyping by sequencing ........................................................................................................................................................................... 12 • Speed ......................................................................................................................................................................................................................... 13 • Databases ............................................................................................................................................................................................................. 14 • DNA input ............................................................................................................................................................................................................... 14 • Initial investment ............................................................................................................................................................................................ 14 3 Process of forensic genetics identification ............................................................................................................................................................. 16 3.1 Comparison of DNA ........................................................................................................................................................................................................ 16 3.2 Quality of DNA data and profiling process ................................................................................................................................................ 17 3.3 Standards, certification of practitioners, and accreditation of laboratories (Wilson-Wilde 2018) ........... 18 3.4 Codes of conduct, the best laboratory practice ..................................................................................................................................... 18 3.5 Logical, Bayesian way of evidence interpretation ............................................................................................................................... 18 4 Genomic Data is Big Data ...................................................................................................................................................................................................... 20 4.1 Big Data bears two risks: data silos and data misuse ..................................................................................................................... 20 4.2 Genealogical, familial, and biogeographical searches using consumer genetics databases ......................... 21 4.3 DNA as phenotypic or biometric data ............................................................................................................................................................. 26 4.4 DNA as health data ........................................................................................................................................................................................................ 30 5 Concerns ................................................................................................................................................................................................................................................ 41 6 Summary with recommendations ................................................................................................................................................................................... 45 References .................................................................................................................................................................................................................................................... 48 Glossary of terms ................................................................................................................................................................................................................................... 55 List of abbreviations and definitions ...................................................................................................................................................................................