Every precision medicine program relies on genomic sequencing of disease cohorts. Analytical insights from these cohorts lead to determining pathogenicity of genetic variants, contribute to known Genotype-Phenotype correlations and inform patient diagnoses.
Effective use of genomic data is challenging due to the large computational resources and data storage required. Specifically, every whole genome that is sequenced typically contains around 5 million variants from the reference genome.
As the size of cohorts grow, the number of variants that need to be rapidly interrogated and stored grows to billions.
We aimed to design a platform that would enable easy interrogation of genome cohorts of any size and support streamlined, ethical data access.
Our goal was to deliver a platform that would suit the needs of diverse users including clinicians, bench scientists and bioinformaticians.