Download exome sequencing?

What does InterGenetics offer as part of the clinical application of genomic analysis exome sequencing?
There are many international research centers and private companies (service labs) offering
NGS-based whole exome sequencing or exome sequencing for groups of genes (gene panels)
as a service, addressed to clinical laboratories or centers, providing only the primary data
analysis (raw data) WITHOUT ANY FURTHER EVALUATION OF DATA (validation) or, more
important, WITHOUT CLINICAL EVALUATION AND DIAGNOSIS.
However, in order for the data from such an analysis to be useful for clinical investigation
and diagnosis, there are many other equally important steps and processes that must be
performed (analysis pipeline), eg:
1. Filtering and evaluation each of the tens of thousands of base changes (variants)
that always arise, regarding quality, accuracy and coverage. This is a key step in any
NGS analysis.
2. Filtering each base change in terms of the exact position within the he gene and
evaluation of its involvement in the functioning of the gene and the corresponding
protein, a sensitive and very important step.
3. Evaluation of each selected / possible mutation, with reference to international
databases, etc.
4. Obligatory confirmation of each of selected mutation through independent analysis
with Sanger sequencing in the patient itself as well as the parents and/or other
family members.
5. Clinical genetic evaluation and diagnosis, i.e. an overall assessment of the final
findings and correlation with the observed or predicted phenotype.
A review of published studies, involving whole exome sequencing for the diagnosis of
genetic diseases in humans, will reveal that the acquisition of primary data is only a small
part of the process.
InterGenetics has installed the proven Illumina GAIIx Genome Analyzer platform, with 2 x
100 paired-end sequencing capability. The results are evaluated with highly specialized
software packages and our custom-designed application Exome Analysis Pipeline - EMA
developed in collaboration with the Technical University of Crete.
We have already successfully completed the clinical diagnosis of the first 2 cases of whole
exome sequencing-WES, which are the first in the country, involving a young patient with
complex problems of the kidneys and eyes and a fetus with multiple malformations. In both
cases, which are in the process of being published, involve discovery of new pathological
mutations which are in a position to explain the phenotypic findings. A further 12 new cases
are currently in the final stages of analysis.
InterGenetics, having a long experience and high level of expertise, is demonstrably able to
provide a clinical diagnosis based on new genomic analyzes, being one of the first diagnostic
laboratories worldwide with this capability.