This week was a busy week of events. While Nadia was in Kyoto for #ICHG2016 attending among other things the GA4GH workshop, I was in Boston at the BioIT World Congress, meeting and discussing genomic data availability with data analysis experts, scientists and many service providers.
The keynotes were highlighting the big data that is around us waiting to be utilised for the benefit of medical research:
Heidi Rehm presented how ClinVar data sharing and crowdsourcing of clinical variant annotation is powering genetics clinics worldwide.
HudsonAlpha is gaining information from WGS for clinical diagnostics and how it is now impossible to refute the evidence of the return on investment of doing whole genome rather than exome sequencing.
Human Longevity is integrating all the possible measurable omics data about a patient to provide 360 degree health checks, but also how they have already used this approach to provide recommendations for targeted cancer treatments with success.
YT: a woman who was given three weeks by Dr came to HLI, was given drugs predicted to work for tumour, now in full remission! #BioIT16— Fiona Nielsen (@glyn_dk) April 7, 2016
In other news from #BioIT16 was Illuminas launch of BaseSpace Informatics Suite which connects their data analysis pipeline all the way from sample management on the machine (LIMS functionality) to variant calling and cohort analysis.
All the service providers and vendors presented demos of their platforms in the exhibition hall and I had great discussions with both DNAnexus and SevenBridges Genomics on how their platforms allow users to collaborate and share their data with their peers in the research community. <--- More on this in a later blog post!