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GenomeQuest is HIPAA Compliant

Yesterday GenomeQuest proudly announced that, effective immediately, GenomeQuest's cloud-based software is HIPAA compliant. Protection of data is a paramount concern for us at GenomeQuest. We've been protecting the data of our patent sequence search customers for over a decade. HIPAA provides an even higher standard for us to have reached to ensure that their data is ...

Takeaways from ACMG 2012

The addition of the word “Genomics” to the American College of Genetics tagline is the clearest indicator of the activity we’ve seen in the diagnostic industry over the past year. If you’re not already employing or planning to employ next-generation sequencing in your clinical genetics lab, you stand to become irrelevant. The meeting was absolutely dominated ...

Clinical sequencing to reach $3.6B?

The recent Macquarie report on clinical sequencing named our diagnostic decision support product, GQ-Dx, the technology leader in informatics and interpretation of clinical sequencing. In that report, they described a scenario where in as little as three years the clinical sequencing market could reach $3.6B. Believe it? GQ-Dx is our response to an overflowing demand by ...

The Future of Pathology in Personalized Medicine

Drs. Jeffrey Saffitz, Mark Boguski, and Peter Tonellato have put together a legendary two day invite-only session on the implications of genomics to the field of pathology and to health care at large. The real influencers in the field are here, from George Church to Eric Green to Rick ...

The Obstacles to Innovation in the Pharmaceutical Enterprise

I was recently asked by the Pistoia Alliance to comment on the following question in their blog: What do you see as the obstacles to innovation in the pharmaceutical industry? I was quite pleased by the request, as this is a topic in which I am personally compelled to participate. As the CEO of GenomeQuest, ...

Clinical diagnostics using next-generation sequencing

On February 3, GenomeQuest announced the first ever integrated Whole Genome Analysis (WGA) software suite that incorporates a genetic diagnostic panel. In concert with the great work done by Dr. Roberta Pagon and the hundreds of GeneReviews authors who have created the authoritative registry of genetic tests available, we can now run every ...

Analysis can keep pace with sequencing

Earlier in the year I wrote an article about the growth curve of worldwide sequencing capacity based on current and expected placements of next-generation sequencing instruments. And while worldwide capacity increases at least at a doubling every year for the next five years, I am equally excited about the progress that has been ...

Implications of exponential growth of global whole genome sequencing capacity

Illumina's HiSeq 2000 running at capacity can sequence two whole human genomes per week at 30x coverage - enough for a full-blown whole genome analysis. One instrument produces 104 human genomes per year. Beijing Genomics Institute alone has purchased 128 of these instruments. The Broad has 51. And based on Illumina's 2010 Q1 10-Q filing, they've ...

OK to move the data 1 time

Lincoln Stein lays out "The case for cloud computing in genome informatics" pretty nicely. The article describes the inflection point of sequencing technology. That is from 1990 to 2004 'base-pair/$' doubled every 19 months versus a doubling every 5 months since 2004 to present. There is no end in sight. Moving data to the ...