Upcoming Webcast – Knowing Your NGS Upstream: Alignment and Variants

Presenter: Gabe Rudy, Vice President of Product Development Date: March 27, 2013 Time: 12:00 pm EDT, 90 Minutes Abstract Alignment algorithms are not just about placing reads in best-matching locations to a reference genome. They are now being expected to handle small insertions, deletions, gapped alignment of reads across intron boundaries and even span breakpoints of structural variations, fusions and… Read more »

Population Structure + Genetic Background + Environment = Mixed Model

A few months ago, our CEO, Christophe Lambert, directed me toward an interesting commentary published in Nature Reviews Genetics by authors Bjarni J. Vilhjalmsson and Magnus Nordborg.  Population structure is frequently cited as a major source of confounding in GWAS, but the authors of the article suggest that the problems often blamed on population structure actually result from the environment… Read more »

Follow Along on an Analyst’s Journey to Filter Whole Genome Data to Four Candidate Variants in SVS

Last week Khanh-Nhat Tran-Viet, Manager/Research Analyst II at Duke University, presented the webcast: Insights: Identification of Candidate Variants using Exome Data in Ophthalmic Genetics. (That link has the recording if you are interested in viewing.) In it, Khanh-Nhat highlighted tools available in SVS that might be under used or were recently updated. These tools were used in his last three… Read more »

Meet Andrew Jesaitis: Software Engineer

In 2011, I was looking for my next move and happened to attend a lecture given by Gabe Rudy at Montana State University. I was immediately struck by his passion and intelligence about the field of bioinformatics. He ended his talk by mentioning that Golden Helix was hiring, and I decided to apply. During my interviews, I discovered that these… Read more »

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 »