Presymptomatic risk assessment for chronic non-communicable diseases

The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for pre-symptomatic risk assessment. Common single nucleotide polymorphisms (SNPs) that tag risk haplotypes across the genome currently account for a non-trivial portion of the germ-line genetic risk and we will likely continue to identify the remaining missing heritability in the form of rare variants, copy number variants and epigenetic modifications. Here, we describe a novel measure for calculating the lifetime risk of a disease, called the genetic composite index (GCI), and demonstrate its predictive value as a clinical classifier. The GCI only considers summary statistics of the effects of genetic variation and hence does not require the results of large-scale studies simultaneously assessing multiple risk factors. Combining GCI scores with environmental risk information provides an additional tool for clinical decision-making. The GCI can be populated with heritable risk information of any type, and thus represents a framework for CNCD pre-symptomatic risk assessment that can be populated as additional risk information is identified through next-generation technologies.Comment: Plos ONE paper. Previous version was withdrawn to be updated by the journal's pdf versio

Evaluation Method, Dataset Size or Dataset Content: How to Evaluate Algorithms for Image Matching?

Most vision papers have to include some evaluation work in order to demonstrate that the algorithm proposed is an improvement on existing ones. Generally, these evaluation results are presented in tabular or graphical forms. Neither of these is ideal because there is no indication as to whether any performance differences are statistically significant. Moreover, the size and nature of the dataset used for evaluation will obviously have a bearing on the results, and neither of these factors are usually discussed. This paper evaluates the effectiveness of commonly used performance characterization metrics for image feature detection and description for matching problems and explores the use of statistical tests such as McNemar’s test and ANOVA as better alternatives