Mutations detection

 

Genoscreen supports you for the bioinformatics analysis
of your sequenced exomes HiSeq2500 data.

 

Our team proposes several levels of analysis to get the best of your sequencing results,
with a dedicated focus on mutations detection:

 

Level 1

Alignment, mapping of a reference of the consensus sequences and annotation

Level 2

Determination of the variations between the reference and the sequences
Comparison with databases to list the known mutations
Normalization writing of all the mutations according to the gene

Level 3

Transcription in amino acids of the mutations position
Influence of the mutation on the protein functionality

Level 4

Writing of the sequences with all the mutations and representation of the coding sequences (position of the mutations on the full gene)

Also available: individual and comparative analysis of exomes

 

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