This manuscript extends on earlier recommendations of the editor of the International Journal of Legal Medicine on short tandem repeat population data and provides details on specific criteria relevant for the analysis and publication of population studies on haploid DNA markers, i.e. Y-chromosomal polymorphisms and mitochondrial DNA. The proposed concept is based on review experience with the two forensic haploid markers databases YHRD and EMPOP, which are both endorsed by the International Society for Forensic Genetics. The intention is to provide guidance with the preparation of population studies and their results to improve the reviewing process and the quality of published data. We also suggest a minimal set of required information to be presented in the publication to increase understanding and use of the data. The outlined procedure has in part been elaborated with the editors of the journal Forensic Science International Genetics.
mtDNA Mitochondrial DNA Y-chromosome STR SNP Guidelines
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Some of the mtDNA recommendations are based on research supported by the FWF Austrian Science Fund Translational Research Programme (L397). We would like to thank Sascha Willuweit and Alexander Röck for valuable assistance and discussion.
Bär W, Brinkmann B, Budowle B et al (2000) DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing. Int J Legal Med 113:193–196CrossRefPubMedGoogle Scholar
Bandelt H-J, Parson W (2008) Consistent treatment of length variants in the human mtDNA control region: a reappraisal. Int J Legal Med 122:11–21CrossRefPubMedGoogle Scholar
Carracedo A, Butler JM, Gusmao L et al (2010) Publication of population data for forensic purposes. Forensic Sci Int Genet 4:145–147CrossRefPubMedGoogle Scholar
Forster L, Forster P, Gurney SM et al (2010) Evaluating length heteroplasmy in the human mitochondrial DNA control region. Int J Legal Med 124:133–142CrossRefPubMedGoogle Scholar
Gusmao L, Butler JM, Carracedo A et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120:191–200CrossRefPubMedGoogle Scholar
Karafet TM, Mendez FL, Meilerman MB et al (2008) New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 18:830–838CrossRefPubMedGoogle Scholar
van Oven M, Kayser M (2009) Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30:E386–E394CrossRefPubMedGoogle Scholar
Parson W, Brandstätter A, Alonso A et al (2004) The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives. Forensic Sci Int 139:215–226CrossRefPubMedGoogle Scholar
Willuweit S, Roewer L, on behalf of the International Forensic Y chromosome User Group (2007) Y Chromosome Haplotype Reference Database (YHRD): update. Forensic Sci Int Genet 1:83–87CrossRefPubMedGoogle Scholar