Category Archives: News, events, & announcements

Upcoming webcast – Insights: Identification of Candidate Variants using Exome Data in Ophthalmic Genetics

Presenter: Khanh-Nhat Tran-Viet, MHA, Manager/Research Analyst II at Duke University Date: March 7, 2013 Time: 12:00 pm EST, 60 Minutes Abstract Technological advances in next generation sequencing provide clinicians and researchers with more effective methods to identify pathogenic gene mutations for heritable diseases. To date, the National Eye Institute Bank lists over 450 genes associated with eye-related disorders. Analytical processing… Read more »

Upcoming webcast: New Study Identifies High-Risk Variants Associated with Autism Spectrum Disorders

Twenty-four new variants discovered, each conferring more than a 2-fold risk of developing ASD Date: January 29, 2013, Noon EST, 90 minutes Presenters: Dr. Hakon Hakonarson, Director of the Center for Applied Genomics, Children’s Hospital of Philadelphia Dr. Mark F. Leppert, Professor of Human Genetics at the University of Utah and Chief Science Advisor at Lineagen Dr. Michael Paul, President… Read more »

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 »