Study Types
Functional Annotation
Functional annotation of gene is a key task in biological sciences that characterises and uncovers associations between genes and gives insight into the biological pathways. The aim of this demonstration is to show associations between the input gene (s), diseases (cancer types) and the mutations occurring in different stages (1-4) of cancer. The platform (BIOOPENER) finds genes that are collocated with the input genes.
Gene Fusion
A fusion gene is a process of forming a hybrid gene from two separated genes. Such fusion results from translocation, interstitial deletion, and/or chromosomal inversion. This demonstration shows a resulting hybrid gene built from a set of input genes and gives insight into the types of mutations associated with the hybrid gene.
Muatation Effect
In order to understand the progression of cancer from nominal to diseased tissues, it is important to identify the unique somatic mutations occurring in cancer cells in various groups of populations. This demonstration shows mutations and stratifies different patient groups based on their ethnicity.
CNV Enrichment
Copy number variation (CNVs) is a study of genomic repetition that differs in every individual. This demonstration shows the mutations, repetition (copies), and frequency of mutations occurring at different chromosome loci