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 »

What Can Exomes Tell Us About the Pathology of Complex Disorders?

My investigation into my wife’s rare autoimmune disease I recently got invited to speak at the plenary session of AGBT about my experience in receiving and interpreting my Direct to Consumer (DTC) exomes. I’ve touched on this before in my post discussing my own exome and a caution for clinical labs setting up a GATK pipeline based on buggy variants… Read more »

Is Illumina Aiming to Compete with its Customers?

In a recent GenomeWeb article by Tony Fong, “Sequenom’s CEO ‘Puzzled’ by Illumina’s Buy of Verinata, Lays out 2013 Goals at JP Morgan,” Harry Hixson, Sequenom’s CEO, expresses puzzlement over why its major supplier, Illumina, is acquiring a Sequenom competitor in Non-Invasive Prenatal Testing (NIPT), and thus apparently competing with one of its major customers. In a JP Morgan interview… 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 »

Three New Scripts and Two Updated Ones

We are excited to let you know about new scripts to aid in filtering rows/columns and identifying unique values in a column, as well as two updated scripts. Don’t forget about the Technical Support Bulletins which keep you up-to-date on all the latest script news. You can stream this feed via an RSS reader, receive email updates, or see the… Read more »