Browsing by Subject "Single nucleotides"

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Open Access
Quantifying genomic privacy via inference attack with high-order SNV correlations
(IEEE, 2015) Samani, S. S.; Huang, Z.; Ayday, Erman; Elliot, M.; Fellay, J.; Hubaux, J.-P.; Kutalik, Z.
As genomic data becomes widely used, the problem of genomic data privacy becomes a hot interdisciplinary research topic among geneticists, bioinformaticians and security and privacy experts. Practical attacks have been identified on genomic data, and thus break the privacy expectations of individuals who contribute their genomic data to medical research, or simply share their data online. Frustrating as it is, the problem could become even worse. Existing genomic privacy breaches rely on low-order SNV (Single Nucleotide Variant) correlations. Our work shows that far more powerful attacks can be designed if high-order correlations are utilized. We corroborate this concern by making use of different SNV correlations based on various genomic data models and applying them to an inference attack on individuals' genotype data with hidden SNVs. We also show that low-order models behave very differently from real genomic data and therefore should not be relied upon for privacy-preserving solutions.
Open Access
Real-time and selective detection of single nucleotide DNA mutations using surface engineered microtoroids
(American Chemical Society, 2015) Toren, P.; Ozgur E.; Bayındır, Mehmet
Mictoroids, as optical biosensors, can provide beneficial biosensing platforms to understand DNA alterations. These alterations could have significant clinical importance, such as the case of Pseudomonas aeruginosa, which is a commonly found pathogen in Cystic Fibrosis (CF) patients-causing poor prognosis by undergoing mutations during disease steps, gaining virulence and drug resistance. To provide a preliminary diagnosis platform for early-stage bacterial mutations, biosensing with a selective microtoroid surface was suggested. For this purpose, microtoroids with high quality factors were fabricated. The microtoroid surfaces were coated with (3-aminopropyl) triethoxysilane (APTES)/trimethylmethoxysilane (TMMS) mixed silane solution followed by EDC/NHS chemistry for covalent conjugation of DNA probes. Ethanolamine capping was applied to avoid unspecific interactions. The confocal studies confirmed homogeneous functionalization of the microtoroid surface. The DNA hybridization was demonstrated to be affected from the probe length. The optical biosensors showed a significant response (∼22 pm) to the complementary strand of the mutated type P. aeruginosa DNA, while showing substantially low and late response (∼5 pm) to the point mismatch strand. The limit of detection (LOD) for the complementary strand was calculated as 2.32 nM. No significant response was obtained for the noncomplementary strand. The results showed the microtoroids possessed selective surfaces in terms of distinguishing DNA alterations.