Category Archives: Clinical genetics

Andreas Scherer

Leveraging SVS for NGS Workflows

Over the last decade, DNA sequencing has made vast technological improvements. With the cost of sequencing decreasing significantly, sequencing technology has become a product for the masses. The sequencing technology and programs that were once used exclusively by major research … Continue reading

Posted in Best practices in genetic analysis, Big picture, Bioinformatic support, Clinical genetics, Uncategorized | Tagged , , , , , , | Leave a comment
Gabe Rudy

The New Human Genome Reference and Clinical Grade Annotations: It’s All About the Coordinates

On my flight back from this year’s Molecular Tri-Conference in San Francisco, I couldn’t help but ruminate over the intriguing talks, engaging round table discussions, and fabulous dinners with fellow speakers. And I kept returning to the topic of how … Continue reading

Posted in Best practices in genetic analysis, Clinical genetics, Personal genomics | 1 Comment
Andreas Scherer

“Precision Medicine”: Moving Next-Generation Sequencing into the Clinic Today

Kellie Carey discussing her treatment with her doctor. Image by Jesse Neider for The Wall Street Journal Just a few weeks ago, the case of Kellie Carey made it to the front page of the Wall Street Journal. Initially, her … Continue reading

Posted in Big picture, Clinical genetics | Leave a comment

Why You Should Go To TCGC

In a couple of short weeks, Gabe is headed off to TCGC in San Francisco where he will be giving part of a short course. He was super excited about it last year and is even more so this year. … Continue reading

Posted in Clinical genetics, News, events, & announcements | Leave a comment
Josh Forsythe

Special Discount – TCGC: Clinical Genomics Conference (don’t miss @gabeinformatics’ next short course!)

During our last webcast, Gabe Rudy mentioned he would be giving a couple upcoming short courses: one on the analysis and interpretation of his personal genome, and one on alignment and variant calling of next-gen sequencing data. If you haven’t … Continue reading

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Gabe Rudy

GATK is a Research Tool. Clinics Beware.

In preparation for a webcast I’ll be giving on Wednesday on my own exome, I’ve been spending more time with variant callers and the myriad of false-positives one has to wade through to get to interesting, or potentially significant, variants. … Continue reading

Posted in Best practices in genetic analysis, Clinical genetics, Personal genomics | 18 Comments
Gabe Rudy

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 … Continue reading

Posted in Big picture, Clinical genetics | 2 Comments