Whole Exome Sequencing
The Next Generation in Genetic Testing
Covers All Genes
All 20,000 protein encoding genes are covered using whole exome sequencing. This is done using the xGene Exome Panel which covers approximately 39 Mb of the human genome. All probes are manufactured using GMP standards and confirmed with mass spectrometry.
Accuracy
In order to ensure the highest level of accuracy we scan every gene on average one hundred times to reduce the possibility of sequencer error. We also use a CLIA certified lab to provide the highest level of confidence in the sample preparation and processing.
Speed
We combine the speed of Illumina NextSeq 500 instrument with our next generation bioinformatics processing capabilities and supercomputing to produce results in a clinically actionable timeline. Preliminary results can be returned in as little as 3 days with in depth results taking up to two weeks.
Integration
We attempt to leverage questionnaires and medical records of both the parents and the subject to form correlations between mutations in genes and corresponding illnesses.
Family Genetics
In order to reduce the number of false positives or negatives we sequence the parents of our subjects as well to determine with a higher degree of confidence which mutations are inherited and which are spontaneous and the potential cause of illness.
Results
Results are returned in a simple readable format that any clinician or researcher can easily reference. We also provide a more detailed annotated variant call file produced using the latest Clinvar data that is curated by the Nation Institute of Health.
Research
Geneopedia is a company dedicated to the preservation of human life from harmful genetic mutations through the creation of early warning technologies. With that in mind we have developed Avalon, a highly flexible bioinformatics solutions that integrates genetic data, research, and ontological information.
Team
Al Katawazi
Al is founder of Geneopedia and started the organization after his 5 year old son died from an undetected genetic mutation. He is the lead computer scientist and developer on this project.
Jacob Shreve
Lead bioinformatician doing development on DNA and RNA pipelining tools and was the original creator of VirGA (Virus Genome Assembly). His background is in bioinformatics and medicine.
James Nitschke
Jim is a former global director at Thermo Fisher Scientific and is working on strategic business planning and the implementation of top notch quality control systems for the organization.
Sherry Phillips
FDA Compliance Officer responsible for ensuring regulatory requirements are met. Previously worked as an FDA regulator and later was director of medical device development at Johnson & Johnson.
Alex Aiezza
Alex is a bioinformatician specializing in the development of compression and transmission technologies used to help accelerate the processing of biological samples through the analysis software.
Dina Katawazi
Dina is a New York State certified medical technologist responsible for the management of samples our organization receives for processing at our CLIA certified laboratory.