Category Archives: Personal genomics

Andreas Scherer

SVS 8.2 – New Capabilities and Features

Earlier this year we completed the marriage of SVS and GenomeBrowse. When we released Version 8 of SVS we completed a major engineering task. A lot of things under the hood of both products had been changed to create a … Continue reading

Posted in Big picture, News, events, & announcements, Personal genomics, Plant & animal | 1 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 | Leave a comment
Gabe Rudy

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 … Continue reading

Posted in Personal genomics | 6 Comments
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

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 … Continue reading

Posted in News, events, & announcements, Personal genomics | 2 Comments
Gabe Rudy

My 23andMe Trio Exomes Arrived: Sneak Peek

There is nothing cooler than having something arrive that you have been excitedly waiting for: last week I got an email notification that my 23andMe exome results were ready. Actually, I got 3 emails that my exome results were ready. … Continue reading

Posted in Personal genomics | 8 Comments

Nature or Nurture: What Insight Can Science Provide?

I recently transitioned jobs – from researching early diagnostics for Type II Diabetes using several omics technologies such as proteomics, metabolomics, and lipidomics – to working with genomics data at Golden Helix.  As scientists, one of the questions we face … Continue reading

Posted in General statistical genetics principles, Personal genomics | Leave a comment
Bryce Christensen

Admixture and Blaine Bettinger

Allow me to introduce you to Blaine Bettinger.  Blaine is a patent attorney who holds a PhD in Biochemistry with a concentration in genetics.  He is also a family history enthusiast who writes the Genetic Genealogist blog, where he gives … Continue reading

Posted in General statistical genetics principles, Personal genomics | 2 Comments