The SNPs in the human genetic blueprint era

• Published in: New biotechnology Vol. 30; no. 5; pp. 475 - 484
• Main Authors: Giampaoli, S., Chillemi, G., Valeriani, F., Lazzaro, D., Borro, M., Gentile, G., Simmaco, M., Zanni, G., Berti, A., Romano Spica, V.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 25.06.2013
• Subjects: Bioethical Issues; bioinformatics; ethics; genetic variation; Genetics, Medical - methods; Genetics, Medical - trends; health promotion; Humans; Phenotype; Polymorphism, Single Nucleotide; sequence analysis; Sequence Analysis, DNA; single nucleotide polymorphism
• ISSN: 1871-6784; 1876-4347
• DOI: 10.1016/j.nbt.2012.11.015

► SNPs analysis can provide valuable information on individual susceptibility to environmental agents or therapeutic treatments. ► New SNP detection technologies and bioinformatic tools are now available for tracing links between genes and diseases. ► Genetic variants play a pivotal role in diagnostic and prevention. The analysis of human genetic variability can lead to the comprehension of medical issues and to the development of personalized therapeutic protocols. Single nucleotide polymorphisms, are the most common type of human genetic variation and have been associated to disease development and phenotype forecasting. The recent technologies for DNA sequencing and bioinformatic analysis are now giving the opportunity to develop new diagnostic and prevention approaches also through health promotion protocols. The genetic data management is at the same time underlining technical limitations and old ethical issues.