Formal analysis of design process dynamics

This paper presents a formal analysis of design process dynamics. Such a formal analysis is a prerequisite to come to a formal theory of design and for the development of automated support for the dynamics of design processes. The analysis was geared toward the identification of dynamic design properties at different levels of aggregation. This...

A survey of functional genomic variation in domesticated chickens

Background: Deleterious genetic variation can increase in frequency as a result of mutations, genetic drift, and genetic hitchhiking. Although individual effects are often small, the cumulative effect of deleterious genetic variation can impact population fitness substantially. In this study, we examined the genome of commercial purebred chicken...

Overturning the Mediterranean Thermohaline Circulation

For more than five decades, the Mediterranean Sea has been identified as a region of so-called thermohaline circulation, namely, of basin-scale overturning driven by surface heat and freshwater exchanges. The commonly accepted view is that of an interaction of zonal and meridional conveyor belts that sink at intermediate or deep convection...

PCADD: SNV prioritisation in Sus scrofa

Background: In animal breeding, identification of causative genetic variants is of major importance and high economical value. Usually, the number of candidate variants exceeds the number of variants that can be validated. One way of prioritizing probable candidates is by evaluating their potential to have a deleterious effect, e.g. by...

Prioritizing sequence variants in conserved non-coding elements in the chicken genome using chCADD

The availability of genomes for many species has advanced our understanding of the non-protein-coding fraction of the genome. Comparative genomics has proven itself to be an invaluable approach for the systematic, genome-wide identification of conserved non-protein-coding elements (CNEs). However, for many non-mammalian model species,...

Accelerated discovery of functional genomic variation in pigs

The genotype-phenotype link is a major research topic in the life sciences but remains highly complex to disentangle. Part of the complexity arises from the number of genes contributing to the observed phenotype. Despite the vast increase of molecular data, pinpointing the causal variant underlying a phenotype of interest is still challenging...