The pioneer in the Electronic Health Record is the U.S. Department of Veterans Administration, with the development of the the Veterans Health Information Systems and Technology Architecture (VistA). They are again on the forefront of the design and development of a new VistA Electronic Health Record (EHR), using an eclectic open source model involving academia, the ...
This news is a couple months old but significant nonetheless in several aspects (keep in mind: this is where the blood-thinning drug warfarin was discovered): Highlights: Researchers at the Medical College of Wisconsin are taking pioneering steps to make whole-genome sequencing a standard part of diagnostic testing for children with rare inherited disorders not easily ...
Last week, GenomeQuest announced whole-genome diagnostics reporting -- I thought that I'd offer some product and industry perspective on this news. The wonderful genetic experts at GeneTests have collected global research on over 2000 genetic disorders – GenomeQuest has built that database into its sequence analysis platform. From a single, whole-genome sequence ...
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 ...
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 ...
Last week, GenomeQuest held our "The Next Generation of Sequence Analysis" seminar for Harvard-based Researchers. It was sponsored by Bob Steen, manager of the Harvard Biopolymers Facility. According to Bob, it was the 2nd largest crowd ever for his seminars and the largest ever for a software topic -- an indicator that reseachers ...
An article by Nicholas Wade, science writer for the New York Times Disease Cause Is Pinpointed With Genome describes two research teams who have independently sequenced the entire genome of patients to find the exact genetic cause of their diseases. A fantastic research blog post at Genetic Future titled Disease hunting ...
Today, we launched our API’s for Sequence Data Management on the cloud. So what? GenomeQuest is now for bioinformatics and computational biologists (we call them developers for short). These are people who prefer to write code in Unix, and prefer awk, perl, and sed to Firefox, Internet Explorer, Safari, or Chrome. So why is that important? With no ...
If you are a developer or a technical type, this one is for you. Over at Depth-First there is a blog post about an application in the cheminformatics field: PubCouch: Streams aren't just for Pipeline Pilot. The author illustrates how a well abstracted Web service avoids the costly database Extract-Transform-Load operations so familiar ...
I'm excited to start our advisory board, with the appointment of Dr. Mark Boguski. Since our initial financing in 2005, our investors have urged us to build the science advisory board. So what took so long? Until now, it wasn't necessary. We provided clear business value to pharma for a well-defined use case. An advisory board ...