Martin Goodson

TL;DR: These sequences provide a starting point for a new era in the functional analysis of a key model organism and show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus.

TL;DR: A read mapper, Stampy, which uses a hybrid mapping algorithm and a detailed statistical model to achieve both speed and sensitivity, particularly when reads include sequence variation, which results in a higher useable sequence yield and improved accuracy compared to that of existing software.

TL;DR: It is inferred that insertion of retrotransposons causes more than half of SVs, and 24 SVs are identified that disrupt coding exons, acting as rare variants of large effect on gene function.

TL;DR: Genomic Association Test (GAT), a tool for estimating the significance of overlap between multiple sets of genomic intervals, implements a null model that the two sets of intervals are placed independently of one another, but allows each set’s density to depend on external variables, for example, isochore structure or chromosome identity.

TL;DR: Colonies' potential is demonstrated by identifying a deletion in the promoter of H2-Ea as the molecular change that strongly contributes to setting the ratio of CD4+ and CD8+ lymphocytes.