The theme of this year’s annual gathering of geneticists at the American Society of Human Genetics conference held in Orlando was centered around expediting the analysis and interpretation of both research and clinical data. The conference kicked off with a talk by ASHG President Dr. Nancy Cox, highlighting the need for diversity in genetic studies to better understand (and be more inclusive of) underrepresented populations. On the other hand, Daniel MacArthur (MGH Boston and the Broad Institute) focused his discussion on the genetics of complex traits and the requirement to sequence a large population. He provided a great overview of genomAD and ExAC, two vast and diverse reference data sets.
In tune with the conference’s theme, the Global Alliance for Genomics and Health (GA4GH) – an effort with currently 500 organizational members across 45 countries, of which BlueBee is a member as well – announced a new vision and five-year strategic plan called GA4GH Connect. The main aim of GA4GH Connect is to drive uptake of GA4GH standards and frameworks for genomic data discovery, analysis, and interpretation in order to enable responsible sharing of clinical-grade genomic data by 2022. It is expected that within the next four years more than 80% of whole genomes and exomes will be sequenced within the healthcare system, as predicted by Ewan Birney, Director of the European Bioinformatics Institute (EMBL-EBI) in Cambridge, UK, and Chair of the GA4GH Steering Committee. As is always the case, with such a bold vision there are some practical challenges that will need to be overcome. These challenges resonate well with BlueBee, and include: local data residency within the country of origin and in line with that support of local data requirements (in support of data federation), collaboration and sharing of data across borders, and support of tight data security and privacy. All these topics have been our highest priority and have been specifically and deliberately addressed within the BlueBee genomics platform, a perfect solution to the above-mentioned challenges.
At ASHG itself the focus was clearly on holistic solutions which of course is entirely in tune with BlueBee’s recent integration with MediSapiens as well as the recently announced support of the PacBio De novo Assembly Analysis Pipeline within the BlueBee genomics analysis platform. These new DNA sequencing solutions continue with our tradition to build functional tools that not only expedite but also simplify data analysis.
All in all ASHG was a very successful conference for the BlueBee team with a bustling booth in the exhibit hall – it was an honor to have so many attendees visit us to learn more about how we can help them with their data analysis efforts. As such, we at BlueBee will continue providing optimized, secure best-practices analysis solutions that are scalable and enable scientists to get insights faster.