AHSG 2017 Roundup – A Shout Out to the Women in Science

This year’s ASHG conference in Orlando was kicked off with an inspiring plenary talk by the ASHG President Dr. Nancy Cox, celebrating diversity, inviting refugees to join the human genetics research mission, and longing for the day when contributions by female scientists will be as valued and as acknowledged as those of men. She concluded with highlighting contributions of women to genetics and science thus far, and by sharing her desire that the future will have a more positive outlook in this regard.

This powerful opening talk was followed by a presentation by Bill Gates and a conversation between Bill Gates and Dr. Francis Collins on global health and genomics. Gates highlighted different projects the Bill & Melinda Gates Foundation had been Continue reading

At AGBT 2016, the Winners Are Long Reads and Whole Solutions

AGBT_logo_RGBThis year’s pilgrimage of geneticist, genomics scientists, and along with that commercial companies was to the JW Marriott in Orlando and not as usual to Marco Island – however, we were assured that the next two AGBT events are already confirmed to be held on Marco Island again. The Orlando Marriott setting seemed fine; nothing beats the Marco island environment with its beach setting which is well worth the extra hour bus ride from the airport to take you there. Having said this, the setting appeared to be more favorable for the vendors in particular, given the more open arrangement of large suites inviting easy access and interactions with conference attendees. Continue reading

At ASHG 2014 genomics was everywhere, with big data and variant analysis/interpretation

AHSG Last week the annual gathering of human geneticists happened at the convention center in sunny San Diego. This year this engaging conference was dominated by genomics, and in particular the topics of big data, variant analysis and interpretation. This emphasis was clearly reflected in the scientific talks, but also in the commercial sector with many companies focusing on providing new solutions on variant analysis, reaching even into the clinical space.

Besides the scientific and commercial aspect of ASHG, which I will summarize later in this blog post, this year the conferences had a strong human side associated with it. For the first time two movies were presented – Genetics in Motion Movies – that were engaging and spot on considering recent news and announcements about the benefits and/or conflicts of knowing and understanding genetic diseases. The first movie [Twitch with Kristen Powers] explored the impact of genetic testing on a young person whose mother had Huntington’s disease. While the movie follows Kristen Powers as she undergoes testing for the disease, it also examines the basic science of the disease itself. The second movie [On Beauty with Rick Guidotti] nicely addresses the need of first recognizing the person before the disease. Rick Guidotti achieves this phenomenally by capturing the beauty of an individual person and not focusing primarily on the disease – his pictures are indeed amazing. Of special interest in this context is

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