A companion video has been to our paper, “Prediction of Mutant mRNA Splice Isoforms by Information Theory-Based Exon Definition,”
DOI: 10.1002/humu.22277, has been published on the Human Mutation website.
Experience the superior sensitivity and speed of the pipeline for yourself. After downloading the free client, you can connect to a trial version of Cytognomix’s commercial plugin installed on the CLC Bio Genomics Server on our DAIR cloud account. There, you may work with the results of our genome-wide analysis of three different cancer cell lines (described in our upcoming paper, see below), or import your own variants and analyze them. Download the Trial Shannon Pipeline Installation Guide for further details on the capabilities of the trial version and on how you may access it.
“Intensity Integrated Laplacian Based Thickness Measurement for Detecting Human Metaphase Chromosome Centromere Location” by Akila Subasinghe Arachchige, Jagath Samarabandu, Joan Knoll and Peter Rogan will be published in IEEE Transactions in Biomedical Engineering.
Abstract—Accurate detection of the human metaphase chromosome centromere is an important step in many chromosome analysis and medical diagnosis algorithms. The centromere location can be utilized to derive information such as thechromosome type, polarity assignment etc. Methods available in literature yield unreliable results mainly due to high variabilityof morphology in metaphase chromosomes and boundary noise present in the image. In this article we have proposed a multi-staged algorithm which includes the use of discrete curve evolution (DCE), gradient vector flow (GVF) active contours, functional approximation of curve segments and support vector machine (SVM) classification. The standard Laplacian thickness measurement algorithm was enhanced to incorporate both contour information as well as intensity information to obtain a more accurate centromere location.
US Patent Application Serial No. 
13/469,531 has had all claims allowed by the USPTO.
This application, AB INITIO GENERATION OF SINGLE COPY GENOMIC PROBES, covers the method and applications of single copy probes containing at least one divergent repetitive element. Examples of probes are described in our new publication: “Expanding probe repertoire and improving reproducibility in human genomic hybridization” by Stephanie N. Dorman, Ben C. Shirley, Joan H. M. Knoll and Peter K. Rogan in Nucleic Acids Research. The patent covers many uses of these probes, including FISH, microarray genomic hybridization, microsphere solution hybridization, and targeted capture arrays for genomic library enrichment in next generation sequencing.