Exome sequencing

AmpliSeq + IonProton and SEQme specialists = Accurate analysis of human exomes in only 3 days

Whole Exome Sequencing - Duo/Trio

Exome sequencing is the most effective way of studying coding regions of the genome. Humans have about 20.000 protein-coding genes, constituting only about 1,5% of the genome but up to 85% of disease-causing mutations can be located within exome. Exome sequencing enables to identify common variants (SNV), copy-number variants (CNV), small insertions or deletions (InDel) and even rare de-novo mutations.

You can choose from:

SO-010 Trio whole exome sequencing

(Includes Sample QC, Exome library prep for 3 samples, Ion Proton single end sequencing, 200 bp, 60-80 million reads, vcf file + annotation)

SO-020 Duo whole exome sequencing

(Includes Sample QC, Exome library prep for 2 samples, Ion Proton single end sequencing, 200 bp, 60-80 million reads, vcf file + annotation)

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