title: In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors: Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy. emiliano.giardina@uniroma2.it
authors: Emiliano
authors: E
authors: Giardina
authors: Ilenia
authors: I
authors: Pietrangeli
authors: Claudia
authors: C
authors: Martone
authors: Paola
authors: P
authors: Asili
authors: Irene
authors: I
authors: Predazzi
authors: Patrizio
authors: P
authors: Marsala
authors: Luciano
authors: L
authors: Gabriele
authors: Claudio
authors: C
authors: Pipolo
authors: Omero
authors: O
authors: Ricci
authors: Gianluca
authors: G
authors: Solla
authors: Luca
authors: L
authors: Sineo
authors: Aldo
authors: A
authors: Spinella
authors: Giuseppe
authors: G
authors: Novelli
mesh_terms: D000349:Africa; D001208:Asia; D002874:Chromosome Mapping; D019295:Computational Biology / Q000379:methods*; D005060:Europe; D018732:Forensic Anthropology / Q000379:methods*; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*