There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many …

Motivation: Unambiguous sequence variant descriptions are important in reporting the outcome of clinical diagnostic DNA tests. The standard nomenclature of the Human Genome Variation Society (HGVS) describes the observed variant sequence relative to a given reference sequence. We propose an efficient …

Author supplied: A manufacturing process can be described by a sequence or combination of production steps. Based on this approach a manufacturing system has been developed that is capable to produce several different products in parallel. A batch size of one unit is possible and the production is pull-driven. …

To obtain large-scale sequence alignments in a fast and flexible way is an important step in the analyses of next generation sequencing data. Applications based on the Smith-Waterman (SW) algorithm are often either not fast enough, limited to dedicated tasks or not sufficiently accurate due to statistical …

From the publisher's site: Abstract: This paper describes the implementation of an agile autonomous agent-based manufacturing system based on a grid. This grid contains production machines, represented by agents, capable to perform certain production steps. Products to be made are also represented …

We have developed CiVi, a user-friendly web-based tool to create custom circular maps to aid the analysis of microbial genomes and sequence elements. Sequence related data such as gene-name, COG class, PFAM domain, GC%, and subcellular location can be comprehensively viewed. Quantitative gene-related …

The identification of translation initiation sites (TISs) constitutes an important aspect of sequence-based genome analysis. An erroneous TIS annotation can impair the identification of regulatory elements and N-terminal signal peptides, and also may flaw the determination of descent, for any particular …

Background: Matching and comparing sequence annotations of different reference sequences is vital to genomics research, yet many annotation formats do not specify the reference sequence types or versions used. This makes the integration of annotations from different sources difficult and error prone. Results: …

The architecture of TP 53 , the most frequently mutated gene in human cancer, is more complex than previously thought. Using TP 53 variants as clinical biomarkers to predict response to treatment or patient outcome requires an unequivocal and standardized procedure toward a definitive strategy for the …

Background Several footwear design characteristics are known to have detrimental effects on the foot. However, one characteristic that has received relatively little attention is the point where the sole flexes in the sagittal plane. Several footwear assessment forms assume that this should ideally …