A Whole Genome Analysis and Visualization Software Company
Mapping and structural variant calling by our custom algorithms: BIMA and SVAtools. Variant calling includes: prediction of gene fusions, gene expression, disruptions and characterization of complex genomic rearrangements and mutations.
WholeGenome provides the Genomoscope™ Visualization;
An integrated and interactive genome wide view of all the variants detected in the sample.
Static reports provide sequencing quality and statistics, and in-depth details for reported structural variants. A summary of all reports is provided in a single pdf format for quick review and sharing among colleagues.
Platforms: pair-end sequencing, mate-pair sequencing (MPseq), RNAseq, and WES.
Multiple sets of data can be layered on the Genomoscope™ Visualization in order to affirm gene status, including expression, amplifications, deletions, double hits, fusions, mutations, etc.
George Vasmatzis, founder of WholeGenome.
@ TEDxMinneapolis:
"How Genomics will change the way we treat Cancer patients"
Features of the Genomoscope™ visualization:
The Genomoscope™ Visualization is a genome wide, integrated and interactive visualization.
To maximize space, the autosomal chromosomes are arranged in a U-shape pattern, with X and Y across the bottom.
Visualization of multivariate genomic data may be toggled on and off via multiple layering options. Cytobands, structural rearrangements, copy number variations and genes are just a few of the layering options.
Structural rearrangements are represented as lines connecting the two breakpoints of a junction. Lines may be arced by the user to differentiate between overlapping junctions.
Copy number variations are color coded blue and red to represent gains and losses respectively, in accordance with standard cytogenetics nomenclature.