In silico and in vitro comparative analysis to select, validate and test SNPs for human identification

Emiliano Giardina, Ilenia Pietrangeli, Claudia Martone, Paola Asili, Irene Predazzi, Patrizio Marsala, Luciano Gabriele, Claudio Pipolo, Omero Ricci, Gianluca Solla, Luca Sineo, Aldo Spinella, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review


Background: The recent advances in human genetics have recently provided new insights into phenotypic variation and genome variability. Current forensic DNA techniques involve the search for genetic similarities and differences between biological samples. Consequently the selection of ideal genomic biomarkers for human identification is crucial in order to ensure the highest stability and reproducibility of results. Results: In the present study, we selected and validated 24 SNPs which are useful in human identification in 1,040 unrelated samples originating from three different populations (Italian, Benin Gulf and Mongolian). A Rigorous in silico selection of these markers provided a list of SNPs with very constant frequencies across the populations tested as demonstrated by the Fst values. Furthermore, these SNPs also showed a high specificity for the human genome (only 5 SNPs gave positive results when amplified in non-human DNA). Conclusion: Comparison between in silico and in vitro analysis showed that current SNPs databases can efficiently improve and facilitate the selection of markers because most of the analyses performed (Fst, r2, heterozigosity) in more than 1,000 samples confirmed available population data.

Original languageEnglish
Article number457
JournalBMC Genomics
Publication statusPublished - Dec 12 2007

ASJC Scopus subject areas

  • Medicine(all)


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