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Overview

Omicsoft is the leading provider of Next Generation Sequencing, Cancer Genomics, Immunology, and Bioinformatics solutions for Next Generation Sequencing Data and Gene Expression Analysis.

Exciting Updates and Latest News

Keeping you up-to-date with the latest in NGS, Bioinformatics Analysis, and cancer genomics with blogs on Array Suite, OncoLand (TCGA and more), ImmunoLand, and more.

[GENOMIC RESEARCH] Mutation Analysis with improved mutation annotation system

Vivian Zhang

Identifying disease associated gene mutations is an important part of genetic disease research in designing of targeted drugs. To accelerate gene mutation analysis, Omicsoft's Land database provides rich mutation visualization views including mutation and somatic mutation site distribution, mutation landscape, and mutation genome browser.  Omicsoft's recent improvement to it's mutation annotation system allows user to annotate and filter mutations based on hundreds of criteria, including mutation confidence, position, gene information, functional mutation, eQTL information, regulation information protein information, and clinical information, using publicly available databases as the source for annotation. 

Land mutation annotation directory

A simple example is to compare the mutation distributions with and without synonymous mutation included:

Figure: TP53 mutation distribution with synonymous mutation included

Figure: TP53 mutation distribution with synonymous mutation included

Figure TP53 mutation distribution with synonymous mutation excluded

Figure TP53 mutation distribution with synonymous mutation excluded

With an improved annotation system, the user can also filter mutation and identify clinical phenotype associated mutations, using database resources like ClinVar.

Databases additionally include SIFT, Polyphen, 1000 Genomes, ExAC, ESP6500, GTEx eQTL, RegulomeDb, and Interpro Domain, and the system is designed to be able to support countless other databases or customer's internal annotation systems as well.

Figure: TP53 mutation landscape in Li Fraumeni Syndrome samples

Figure: TP53 mutation landscape in Li Fraumeni Syndrome samples