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RESEARCH PRODUCT
In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
Omero RicciGiuseppe NovelliGiuseppe NovelliEmiliano GiardinaAldo SpinellaLuciano GabrieleIrene M. PredazziLuca SineoIlenia PietrangeliPaola AsiliPatrizio MarsalaClaudia MartoneClaudio PipoloGianluca Sollasubject
Asialcsh:QH426-470lcsh:BiotechnologyIn silicoPolymorphism Single Nucleotide; Heterozygote Detection; Gene Frequency; Humans; Africa; Europe; Computational Biology; Sequence Analysis DNA; Forensic Anthropology; Asia; Chromosome MappingSingle-nucleotide polymorphismBiologyHeterozygote DetectionGenomePolymorphism Single NucleotideGene Frequencylcsh:TP248.13-248.65GeneticsHumansPolymorphismAllele frequencySelection (genetic algorithm)GeneticsGenetic Carrier ScreeningChromosome MappingComputational BiologySingle NucleotideDNASequence Analysis DNAHuman geneticsEuropelcsh:GeneticsSettore MED/03 - Genetica MedicaAfricaSNPs HUMAN IDENTIFICATION comparative analysisForensic AnthropologyHuman genomeDNA microarraySequence AnalysisBiotechnologyResearch Articledescription
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). 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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2007-01-01 | BMC genomics |