Genetic Approaches to Appearance and Ancestry

Traditionally, routine forensic casework is based on comparative grounds. DNA profiles obtained from crime-scenes are compared with those of potential suspects or DNA profiles deposited in forensic DNA databases. The principal limitation of such comparative approach is that trace donors unknown to the investigators with their DNA profiles cannot be identified. The recent advancements in Forensic DNA Phenotyping can provide investigative leads to help find previously unknown individuals by inferring externally visible characteristics and biogeographic ancestry prediction without comparative DNA testing. Some predictive DNA tests for appearance and ancestry were previously developed by our group, but their forensic validation, as prerequisite for casework application, was mostly missing thus far. For other appearance traits the genetic knowledge was previously not advanced enough to develop predictive DNA tests. Moreover, the genotyping technology capable of tolerating quality and quantity issues of trace DNA and at the same time allowing the parallel analysis of large number of DNA markers was previously not available, which limited previously developed forensic ancestry DNA tests. The major aims of this thesis therefore are to: - forensically validate DNA test systems for predicting appearance and ancestry that were recently developed by our group i.e., IrisPlex for eye color prediction, HIrisPlex for hair and eye color prediction, and a set of mtDNA multiplexes for maternal ancestry prediction; - develop and forensically validate a new DNA test system for skin color prediction in combination with eye and hair color prediction from trace DNA; - develop and forensically validate a new DNA test system for complete mitogenome analysis providing maximum-resolution maternal lineage and maternal ancestry inference from trace DNA.

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article Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine L.C. Chaitanya (Lakshmi), A. Ralf (Arwin), M. van Oven (Mannis), T. Kupiec (Tomasz), J. Chang (Joseph), R. Lagacé (Robert) and M.H. Kayser (Manfred)
article High-quality mtDNA control region sequences from 680 individuals sampled across the Netherlands to establish a national forensic mtDNA reference database L.C. Chaitanya (Lakshmi), M. van Oven (Mannis), S. Brauer (Silke), B. Zimmermann (Bettina), G. Huber (Gabriela), C. Xavier (Catarina), W. Parson (Walther), P. de Knijff (Peter) and M.H. Kayser (Manfred)
article Bringing colour back after 70 years: Predicting eye and hair colour from skeletal remains of World War II victims using the HIrisPlex system L.C. Chaitanya (Lakshmi), I.Z. Pajnič (Irena Zupanič), S. Walsh (Susan), J. Balažic (Jože), Zupanc, T. (Tomaž) and M.H. Kayser (Manfred)
article A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing J.M. Weiler, Baca, K., Ballard, D., Balsa, F., Bogus, M., C. Børsting, F. Brisighelli (Francesca), Červenáková, J., L.C. Chaitanya (Lakshmi), M.D. Coble (Michael), et al. V. Decroyer, Desmyter, S., K. van der Gaag (Kristiaan), K.B. Gettings, C. Haas (Cordula), Heinrich, J., João Porto, M., A.J. Kal (Arnoud J.), M.H. Kayser (Manfred), Kúdelová, A., N. Morling (Niels), Mosquera-Miguel, A., Noel, F., W. Parson (Walther), Pereira, V., Phillips, C., P.M. Schneider (Peter), D. Syndercombe-Court (Denise), M. Turanska (Martina), A. Vidaki (Athina), Woliński, P., L. Zatkalíková (Lívia) and T. Sijen (Titia)
article Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour L.C. Chaitanya (Lakshmi), S. Walsh (Susan), J.D. Andersen (Jeppe Dyrberg), R. Ansell (Ricky), K. Ballantyne (Kaye), D.J. Ballard (David), R. Banemann (Regine), C.M. Bauer (Christiane Maria), A.M. Bento (Ana Margarida), F. Brisighelli (Francesca), et al. T. Capal (Tomas), L. Clarisse (Lindy), T.E. Gross (Theresa), C. Haas (Cordula), P. Hoff-Olsen (Per), C. Hollard (Clémence), C. Keyser (Christine), K.M. Kiesler (Kevin), P. Kohler (Priscila), T. Kupiec (Tomasz), A. Linacre (Adrian), A. Minawi (Anglika), N. Morling (Niels), H. Nilsson (Helena), L. Norén (Lina), R. Ottens (Renée), J. Palo (Jukka), W. Parson (Walther), V.L. Pascali (Vincenzo), C. Phillips (Christopher), M.J. Porto (Maria João), A. Sajantila (Antti), P.M. Schneider (Peter), T. Sijen (Titia), J. Söchtig (Jens), D. Syndercombe-Court (Denise), A. Tillmar (Andreas), M. Turanska (Martina), P.M. Vallone (Peter), L. Zatkalíková (Lívia), A. Zidkova (Anastassiya), W. Branicki (Wojciech) and M.H. Kayser (Manfred)
article Developmental validation of mitochondrial DNA genotyping assays for adept matrilineal inference of biogeographic ancestry at a continental level L.C. Chaitanya (Lakshmi), M. van Oven (Mannis), J.M. Weiler, J. Harteveld (Joyce), L. Wirken (Laura), T. Sijen (Titia), P. de Knijff (Peter) and M.H. Kayser (Manfred)
article Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage S. Walsh (Susan), L.C. Chaitanya (Lakshmi), L. Clarisse (Lindy), L. Wirken (Laura), J. Draus-Barini (Jolanta), L. Kovatsi (Leda), H. Maeda (Hitoshi), T. Ishikawa (Takaki), T. Sijen (Titia), P. de Knijff (Peter), et al. W. Branicki (Wojciech), F. Liu (Fan) and M.H. Kayser (Manfred)