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    <front>
                        
                        <journal-meta>
            <issn>1230-7483</issn>
                                </journal-meta>
        <article-meta>
            <title-group>
                                    <article-title>DNA testing for investigative purposes: search for the perpetrator’s DNA profile and kinship analysis</article-title>
                                    <article-title>Badania DNA dla celów dochodzeniowo-śledczych – poszukiwania profilu DNA sprawcy i analiza pokrewieństwa</article-title>
                            </title-group>

                        <contrib-group>
                                                            <contrib contrib-type="author" corresp="yes">
                            <name>
                                <surname>Branicki</surname>
                                <given-names>Wojciech</given-names>
                            </name>
                            <role>author</role>
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                                                                                                        <xref ref-type="aff" rid="aff-2"/>
                                                                                        <xref ref-type="corresp" rid="cor-1"/>
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                                                                                        <aff id="aff-1">
                    <institution-wrap>
                        <institution> Instytut Zoologii i Badań Biomedycznych, Uniwersytet Jagielloński, Kraków</institution>
                                            </institution-wrap>
                </aff>
                                                                                            <aff id="aff-2">
                    <institution-wrap>
                        <institution>Instytut Ekspertyz Sądowych im. Prof. dra Jana Sehna w Krakowie</institution>
                                            </institution-wrap>
                </aff>
                            
            <author-notes>
                                    <corresp id="cor-1">Correspondence to: Wojciech Branicki <email>wbranicki@ies.gov.pl</email></corresp>
                            </author-notes>

                            <pub-date date-type="pub" publication-format="electronic" iso-8601-date="2024-06-28">
                    <day>28</day>
                    <month>06</month>
                    <year>2024</year>
                </pub-date>
            
            <volume>137</volume>
            <issue>2024</issue>
                        <fpage>5</fpage>
                                    <lpage>16</lpage>
            
            <permissions>
                <copyright-statement>Copyright &#x00A9; 2024</copyright-statement>
                                    <copyright-year>2024</copyright-year>
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    <body>
        Almost 40 years have passed since Alec Jeffreys’ seminal publications on the use of repetitive DNA marker analysis for human identification. The analysis of STR markers using multiplex PCR methods that followed this discovery has become a standard test for human identification. These methods also have investigative value. They are useful in the search for an unknown perpetrator through mass DNA testing as well as through forensic DNA databases. Another breakthrough is the analysis of long-range relationships. The ability to establish long-range relationships has enabled investigators to find the perpetrator of a crime, even in the absence of investigative hypotheses, by analysing the genealogical links recorded in our genomes. Modern DNA analysis not only provides strong evidence to be presented in court, but can also provide useful investigative leads when the identity of the perpetrator is unknown to the authorities.
    </body>
    <back>
                    <ref-list>
                                                                                <ref id="B1">
                            <label>1</label>
                            <article-title>1. Jeffreys AJ, Wilson V, Thein SL. Hypervariable ‘minisatellite’ regions in human DNA. Nature. 1985 Mar 7-13;314(6006):67-73. doi: 10.1038/314067a0.</article-title>
                        </ref>
                                                                                                    <ref id="B2">
                            <label>2</label>
                            <article-title>2. Gill P, Jeffreys AJ, Werrett DJ. Forensic application of DNA ‘fingerprints’. Nature. 1985;318(6046):577-9. doi: 10.1038/318577a0.</article-title>
                        </ref>
                                                                                                    <ref id="B3">
                            <label>3</label>
                            <article-title>3. Jeffreys AJ, Brookfield JFY, Semeonoff R. Positive identification of an immigration test-case using human DNA fingerprints. Nature. 1985;317:818-819.</article-title>
                        </ref>
                                                                                                    <ref id="B4">
                            <label>4</label>
                            <article-title>4. Jobling MA. Curiosity in the genes: the DNA fingerprinting story. Investig Genet. 2013;4(1):20. doi: 10.1186/2041-2223-4-20.</article-title>
                        </ref>
                                                                                                    <ref id="B5">
                            <label>5</label>
                            <article-title>5. Saiki RK, Scharf S, Faloona F, Mullis K B, Horn GT, Erlich HA, Arnheim N. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985;230(4732):1350-4. doi: 10.1126/science.2999980.</article-title>
                        </ref>
                                                                                                    <ref id="B6">
                            <label>6</label>
                            <article-title>6. Edwards A, Civitello A, Hammond HA, Caskey CT. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet. 1991;49(4):746-56.</article-title>
                        </ref>
                                                                                                    <ref id="B7">
                            <label>7</label>
                            <article-title>7. Koehler JJ, Mnookin JL, Saks MJ. The scientific reinvention of forensic science. Proc Natl Acad Sci USA. 2023;120(41):e2301840120. doi: 10.1073/pnas.2301840120.</article-title>
                        </ref>
                                                                                                    <ref id="B8">
                            <label>8</label>
                            <article-title>8. Sullivan K M, Mannucci A, K impton CP, Gill P. A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Biotechniques. 1993;15(4):636-8, 640-1.</article-title>
                        </ref>
                                                                                                    <ref id="B9">
                            <label>9</label>
                            <article-title>9. Dettlaff-Kakol A, Pawlowski R. First Polish DNA ‘manhunt’ – an application of Y-chromosome STRs. Int J Legal Med. 2002;116(5):289-91. doi: 10.1007/s00414-002- 0320-0.</article-title>
                        </ref>
                                                                                                    <ref id="B10">
                            <label>10</label>
                            <article-title>10. Amankwaa AO. Forensic DNA retention: public perspective studies in the United K ingdom and around the world. Sci Justice. 2018;58(6):455-464. doi: 10.1016/j.scijus.2018.05.002.</article-title>
                        </ref>
                                                                                                    <ref id="B11">
                            <label>11</label>
                            <article-title>11. Struyf P, De Moor S, Vandeviver C, Renard B, Vander Beken T. The effectiveness of DNA databases in relation to their purpose and content: a systematic review. Forensic Sci Int. 2019;301:371-381. doi: 10.1016/j.forsciint.2019.05.052.</article-title>
                        </ref>
                                                                                                    <ref id="B12">
                            <label>12</label>
                            <article-title>12. Machado H, Granja R, Amorim A. Ethical challenges of merging criminal identification and civil identification within the Prüm system. Forensic Sci Int Genet. 2022;57:102660. doi: 10.1016/j.fsigen.2022.102660.</article-title>
                        </ref>
                                                                                                    <ref id="B13">
                            <label>13</label>
                            <article-title>13. Santos F, Machado H, Silva S. Forensic DNA databases in European countries: is size linked to performance? Life Sci Soc Policy. 2013;9:12. doi: 10.1186/2195-7819-9-12.</article-title>
                        </ref>
                                                                                                    <ref id="B14">
                            <label>14</label>
                            <article-title>14. Branicki W, Kupiec T. Ekspertyza genetyczna. In: Kała M, Wilk D, Wójcikiewicz J, Zuba D, editors. Ekspertyza sądowa. Zagadnienia wybrane. Warszawa: Wolters K luwer; 2023. p. 154.</article-title>
                        </ref>
                                                                                                    <ref id="B15">
                            <label>15</label>
                            <article-title>14. Ge J, Budowle B. Forensic investigation approaches of searching relatives in DNA databases. J Forensic Sci. 2021;66(2):430-443. doi: 10.1111/1556-4029.14615.</article-title>
                        </ref>
                                                                                                    <ref id="B16">
                            <label>16</label>
                            <article-title>16. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860-921. doi: 10.1038/35057062.</article-title>
                        </ref>
                                                                                                    <ref id="B17">
                            <label>17</label>
                            <article-title>17. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science. 2001;291(5507):1304-51. doi: 10.1126/science.1058040.</article-title>
                        </ref>
                                                                                                    <ref id="B18">
                            <label>18</label>
                            <article-title>18. International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931-45. doi: 10.1038/nature03001. linked to performance? Life Sci Soc Policy. 2013;9:12. doi: 10.1186/2195-7819-9-12.</article-title>
                        </ref>
                                                                                                    <ref id="B19">
                            <label>19</label>
                            <article-title>19. Slatko BE, Gardner AF, Ausubel FM. Overview of next-generation sequencing technologies. Curr Protoc Mol Biol. 2018;122(1):e59. doi: 10.1002/cpmb.59.</article-title>
                        </ref>
                                                                                                    <ref id="B20">
                            <label>20</label>
                            <article-title>20. Krumm N, Hoffman N. Practical estimation of cloud storage costs for clinical genomic data. Pract Lab Med. 2020;21:e00168. doi: 10.1016/j.plabm.2020.e00168.</article-title>
                        </ref>
                                                                                                    <ref id="B21">
                            <label>21</label>
                            <article-title>21. International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437(7063):1299-320. doi: 10.1038/nature04226.</article-title>
                        </ref>
                                                                                                    <ref id="B22">
                            <label>22</label>
                            <article-title>22. Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467(7319):1061-73. doi: 10.1038/nature09534.</article-title>
                        </ref>
                                                                                                    <ref id="B23">
                            <label>23</label>
                            <article-title>23. Horvath S. DNA methylation age of human tissues and cell types. Genome Biol. 2013;14(10):R115. doi: 10.1186/gb-2013-14-10-r115.</article-title>
                        </ref>
                                                                                                    <ref id="B24">
                            <label>24</label>
                            <article-title>24. Vidaki A, K ayser M. From forensic epigenetics to forensic epigenomics: broadening DNA investigative intelligence. Genome Biol. 2017;18(1):238. doi: 10.1186/s13059-017-1373-1.</article-title>
                        </ref>
                                                                                                    <ref id="B25">
                            <label>25</label>
                            <article-title>25. Erlich Y, Shor T, Pe’er I, Carmi S. Identity inference of genomic data using long-range familial searches. Science. 2018;362(6415):690-694. doi: 10.1126/science.aau4832.</article-title>
                        </ref>
                                                                                                    <ref id="B26">
                            <label>26</label>
                            <article-title>26. Kling D, Phillips C, K ennett D, Tillmar A. Investigative genetic genealogy: current methods, knowledge and practice. Forensic Sci Int Genet. 2021;52:102474. doi: 10.1016/j.fsigen.2021.102474.</article-title>
                        </ref>
                                                                                                    <ref id="B27">
                            <label>27</label>
                            <article-title>27. Li H, Glusman G, Hu H, Shankaracharya, Caballero J, Hubley R, et al. Relationship estimation from whole-genome sequence data. PLoS Genet. 2014 Jan 30;10(1):e1004144. doi: 10.1371/journal.pgen.1004144.</article-title>
                        </ref>
                                                                                                    <ref id="B28">
                            <label>28</label>
                            <article-title>28. Phillips C. The Golden State K iller investigation and the nascent field of forensic genealogy. Forensic Sci Int Genet. 2018;36:186-188. doi: 10.1016/j.fsigen.2018.07.010.</article-title>
                        </ref>
                                                                                                    <ref id="B29">
                            <label>29</label>
                            <article-title>29. Rogalla-Ładniak U. The overview of forensic genetic genealogy. Arch Med Sadowej K ryminol. 2022;72(4):211-222. doi:10.4467/16891716AMSIK.22.023.17623.</article-title>
                        </ref>
                                                                                                    <ref id="B30">
                            <label>30</label>
                            <article-title>30. Peck M, K oeppel A, Gorden E, Bouchet J, Heaton M, Russell D, et al. Internal validation of the ForenSeq Kintelligence kit for application to forensic genetic genealogy. Forensic Genomics. 2023;2:103-114. doi.org/10.1089/forensic.2022.0014.</article-title>
                        </ref>
                                                                                                    <ref id="B31">
                            <label>31</label>
                            <article-title>31. Tillmar A, Fagerholm SA, Staaf J, Sjölund P, Ansell R. Getting the conclusive lead with investigative genetic genealogy – a successful case study of a 16 year old double murder in Sweden. Forensic Sci Int Genet. 2021;53:102525. doi: 10.1016/j.fsigen.2021.102525.</article-title>
                        </ref>
                                                                                                    <ref id="B32">
                            <label>32</label>
                            <article-title>32. Zabel J. The killer inside us: law, ethics, and the forensic use of family genetics. Berkeley J Crim L. 2019; 47-100. http://dx.doi.org/10.2139/ssrn.3368705.</article-title>
                        </ref>
                                                </ref-list>
            </back>
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