MGB provides a familiar track-based interface for exploring the sequence variation within genomes. This proprietary browser is loaded with appropriate canonical reference genome sequences.

Browser Features

• Provides tools for comparison of genome sequences
• Facilitates a 'drill down' into genes or genomic regions of interest
• Enables comparison of structural variations (SVs), single nucleotide variations (SNVs) and other copy number anomalies across control and experimental genomes
• Allows the sharing of results with selected parties through data access control option
• Contains databases of known genetic diseases and available drugs
• Provides detailed information on mutations related to diseases and drugs

The Hotspot database is loaded with the complete set of sequence variations identified within genome sequences and their accompanying confidence scores, read depths and supporting metadata. This application enables users to select the best scoring variations that may correspond to rare de novo mutations or more common Mendelian variations based on experimental needs.

Hotspot Features

• Analyses mutations on the gene level
• Identifies mutations that can be validated within research projects
• Compares mutations between genes
• Identifies genes that are enriched for mutations across multiple studies

Our analytical pipeline compares SNVs, SVs and copy number variation (CNV) among different genomes. It allows the extraction of variations that are unique and common across multiple samples.

Analysis Features

• Displays similarities and differences in variations via Venn diagrams
• Enables thorough comparison of multiple genomes
• Identifies variations that are unique to a tumour genome
• Identifies common variations that are found only in tumour genomes
• Extracts results for further analysis

This service identifies and compares the variants of a particular gene such as insertions, deletions, single nucleotide polymorphisms (SNPs), CNV and SVs, across different genome samples.

Analysis Features

• Highlights full variations in genes
• Facilitates a 'drill down' into a gene of interest
• Filters variations through confidence scores
• Provides cross genome comparison of all variations with a gene of interest
• Categorises variations by their functional location, novelty and zygosity
• Displays detailed variant information

Variants are annotated to enhance the interpretation of results. These annotations are made against GenBank, dbSNP, DGV and other databases to highlight relevant variant functional information. In addition, disease and drug-related annotations from OMIM, NLM Disease Database, PharmGKB and Drug Bank form part of the standard variation analysis.

Annotation Features

• Identifies functional location of a variant e.g. gene, coding region, promoter and others
• Identifies synonymous, non-synonymous, mis-sense and non-sense SNPs
• Provides gene keywords and functional classification by gene set
• Annotates against popular disease and drug databases