Category Archives: Clinical genetics

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 | Leave a 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 | 1 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 | 17 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