Upcoming Webcast: 23andMe Variant Analysis of My Personal Exome

Join me on December 5th for a one-hour webcast as I explore my personal exome provided by the Exome Pilot project of 23andMe. Exome sequencing has seen many success stories in the realm of diagnosing highly penetrant monogenic disorders as well as in informing treatment of certain cancers. As the use of exome sequencing expands to more complex polygenic disorders… Read more »

SVS 7.7 is here!

      Delaina Hawkins    November 19, 2012    No Comments on SVS 7.7 is here!

After much anticipation, we are excited to announce that SVS 7.7 is available! It’s been a lot of work, but we are pleased with the result and know you will be too! SVS 7.7 includes: Improved RNA-Seq Analysis Package for mRNA Expression Profiling Import tabularized quantification data from the Golden Helix pipeline or other sources. Utilize DESeq to perform differential… Read more »

Yes, GenomeBrowse is completely free

Last week I had the opportunity to attend my first ever ASHG conference in San Francisco. What an experience! It was a blast. And I especially appreciated being able to show off our new genome browser (GenomeBrowse) to researchers who have or were about to get their DNA-Seq and RNA-Seq BAM files. But what I heard over and over again… Read more »

Golden Helix Leaves Its Fingerprint on the Cure with EA at ASHG

Golden Helix is proud to announce our participation in EA’s 2012 “Leave Your Fingerprint on the Cure.” This event will be taking place at ASHG 2012 in San Francisco at the Moscone Center on November 7th. The fifth annual “Leave Your Fingerprint on the Cure” was designed by EA to help raise money for researchers in their efforts to discover… Read more »

To Find a Killer Variant: Successes and Challenges on the Journey to Mass Adoption of NGS in the Clinic

Recently, I have been spending some time analyzing real patient data. I’m preparing for a webcast I’ll be giving in which I will walk through the process of replicating the findings of Dr. Gholson Lyon‘s study on the novel disease diagnosis he named Ogden Syndrome. Being so close to data that comes directly from clinical settings got me thinking about… Read more »