Approximation properties of haplotype tagging

BACKGROUND: Single nucleotide polymorphisms (SNPs) are locations at which the genomic sequences of population members differ. Since these differences are known to follow patterns, disease association studies are facilitated by identifying SNPs that allow the unique identification of such patterns. This process, known as haplotype tagging, is formulated as a combinatorial optimization problem and analyzed in terms of complexity and approximation properties. RESULTS: It is shown that the tagging problem is NP-hard but approximable within 1 + ln((n(2 )- n)/2) for n haplotypes but not approximable within (1 - ε) ln(n/2) for any ε > 0 unless NP ⊂ DTIME(n(log log n)). A simple, very easily implementable algorithm that exhibits the above upper bound on solution quality is presented. This algorithm has running time O([Image: see text] (2m - p + 1)) ≤ O(m(n(2 )- n)/2) where p ≤ min(n, m) for n haplotypes of size m. As we show that the approximation bound is asymptotically tight, the algorithm presented is optimal with respect to this asymptotic bound. CONCLUSION: The haplotype tagging problem is hard, but approachable with a fast, practical, and surprisingly simple algorithm that cannot be significantly improved upon on a single processor machine. Hence, significant improvement in computatational efforts expended can only be expected if the computational effort is distributed and done in parallel

Applying a decision support system in clinical practice: Results from melanoma diagnosis

Abstract The work reported in this paper investigates the use of a decision-support tool for the diagnosis of pigmented skin lesions in a real-world clinical trial with 511 patients and 3827 lesion evaluations. We analyzed a number of outcomes of the trial, such as direct comparison of system performance in laboratory and clinical setting, the performance of physicians using the system compared to a control dermatologist without the system, and repeatability of system recommendations. The results show that system performance was significantly less in the real-world setting compared to the laboratory setting (c-index of 0.87 vs. 0.94, p = 0.01). Dermatologists using the system achieved a combined sensitivity of 85% and combined specificity of 95%. We also show that the process of acquiring lesion images using digital dermoscopy devices needs to be standardized before sufficiently high repeatability of measurements can be assured

Disambiguation Data: Extracting Information from Anonymized Sources

Privacy protection is an important consideration when releasing medical databases to the research community. We show that while recent advances in anonymization algorithms provide increased levels of protection, it is still possible to calculate approximations to the original data set. In some cases, one can even uniquely reconstruct entries in a table before anonymization. In this paper, we demonstrate how knowledge of an anonymization algorithm based on ambiguating data cell entries can be used to undo the anonymization process. We investigate the effect of this algorithm and its reversal on data sets of varying sizes and distributions. It is shown that by using a computationally complex disambiguation process, information on individuals can be extracted from an anonymized data set