Large scale genotype phenotype correlation analysis based on phylogenetic trees

Large scale genotype-phenotype correlation analysis based on phylogenetic trees

We provide two methods for identifying changes in genotype that are correlated with changes in a phenotype implied by phylogenetic trees. The first method, VENN, works when the number of branches over which the change occurred are modest. VENN looks for genetic changes that are completely penetrant with phenotype changes on a tree. The second method, CCTSWEEP, allows for a partial matching betw...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

TBC1D24 genotype–phenotype correlation

OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included (28 men, 20 women, average age 21 year...

An efficient approach to large-scale genotype-phenotype association analyses

Modern molecular biotechnology generates a great deal of intermediate information, such as transcriptional and metabolic products in bridging DNA and complex traits. In genome-wide linkage analysis and genome-wide association study, regression analysis for large-scale correlated phenotypes is applied to map genes for those by-products that are regarded as quantitative traits. For a single trait...

A Framework for Large-scale Interactive Visualization of Phylogenetic Trees

The integration of rendering services for large-scale datasets is a challenging task when it comes to complex datastructures. While regular and irregular grids have been widely addressed before, we are going to discuss other complex datastructures, including trees and super-trees, and our new approaches to visualize those very large datasets hierarchically. The framework covers techniques suita...