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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.

[Feature Update] Improved Mutation Annotation

Vivian Zhang

Mutation identification is one of the most important types of genomic research analyses. The genomic position of the identified mutations is a critical factor to assess the importance and functionality of the mutations. Recently, we improved our mutation annotation categorization to help users better research mutation. 

Now, we added a third category, Consequence, beyond the original Type and Location of gene information: 

The new category helps to clarify the effects of the mutation, including the following categories:

  • SYNONYMOUS: change of a single nucleotide in CDS but not causing amino acid change
  • NON_SYNONYMOUS: change of a single nucleotide in CDS and causing amino acid change
  • FRAME_SHIFT: Frameshift (total of NT changes are not 3N) in CDS caused by insertion, deletion or indel
  • STOP_GAIN: mutation creating a stop codon
  • STOP_LOSS: mutation destroying a stop codon
  • NO_CONSEQUENCE: any consequence not described above, such as SUBSTITUTION in the intergeneic regions. It is only a technical (not a biological) definition.