What is Whole Exome Sequencing Analysis?
As WES technology is more readily available, many individuals get WES testing done at other laboratories. However, the data is only as good as the analysis. aiDX uses ai assisted bioinformatics platform to analyze WES data. Our platform allows for novel insights into variant/gene and disease associations.
What we Do?
We obtain your medical records to better establish the phenotype (the disease manifestations). Unlike other labs that use a limited phenotype, having more robust clinical data is key to our bioinformatic pipeline.
- We can classify variants based on prioritization and association with phenotypes.
- Variants are investigated across 50 + biomedical data sources including a deep-dive into the medical literature to establish novel disease associations.
- Access to over 750000 individual genetic bio-database allows for better variant to disease association identification.
- ACMG / AMP Variant Implementation Guidelines – The American College of Medical Genetics and Genomics and the Association for Molecular Pathology established criteria to for variant interpretation.
- Context classification of inheritance models
- Variant Frequency, Clinical Significance and Damage effect predictions considered in report analysis.
- In-Silico predictive algorithms to determine the effect of sequence variants.
Hard-Drive with FASTA Raw data sequence files
Why should I get a Second Opinion on WES Analysis?
It’s all about the DATA!!! The data is only as good as the bioinformatics and the people doing the analysis.
- If you have data generated from a lab without analysis
- If you are looking for additional insights from the data
A hard drive should be shipped to our laboratory at 7040 Lake Ellenor Drive.
Insurance may NOT be billed for this test.