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

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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.