Author Archives: Gabe Rudy

About Gabe Rudy

Meet Gabe Rudy, GHI’s Vice President of Product and Engineering and team member since 2002. Gabe thrives in the dynamic and fast-changing field of bioinformatics and genetic analysis. Leading a killer team of Computer Scientists and Statisticians in building powerful products and providing world-class support, Gabe puts his passion into enabling Golden Helix’s customers to accelerate their research. When not reading or blogging, Gabe enjoys the outdoor Montana lifestyle. But most importantly, Gabe truly loves spending time with his sons, daughter, and wife. Follow Gabe on Twitter @gabeinformatics.

  

A Conversation with 1000 Genomes Analysis Group Member: Jeffrey Rosenfeld

After my latest blog post, Jeffrey Rosenfeld reached out to me. Jeff is a member of the Analysis Group of the 1000 Genomes Project and shared some fascinating insights that I got permission to share here: Hi Gabe, I saw your great blog post about the problems in the lack of overlap between Complete Genomics and 1000 Genomes data.  I… Read more »

One Track to Rule Them All: Close but not quite from the 1000 Genomes Project

I recently curated the latest population frequency catalog from the 1000 Genomes Project onto our annotation servers, and I had very high hopes for this track. First of all, I applaud 1000 Genomes for the amount of effort they have put in to providing the community with the largest set of high-quality whole genome controls available. My high hopes are… Read more »

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. You see, I lucked out. It all began two years ago on DNA day when Hacker News reported that 23andMe… Read more »

Exaggerating your number of controls or being precise? “Variant not found in over 10,000 chromosomes from EVS…”

Reading through the last release of AJHG I saw a couple papers mention that the putative rare variant they were investigating was “not present in over 10,000 control chromosomes from the EVS”. My first reaction was, “What? Do they mean the NHLBI 5400 Exome Sequencing Project? They only have 5,400 exomes not over 10,000! I wonder if there is some… Read more »

Admixture in Reference Populations: 1000 Genomes Uses African Americans in African Reference Group

Today I ran into an interesting fact about how a prolifically used catalog of population controls classifies African Americans with potential impacts on research outcomes. The 1000 Genomes Project is arguably our best common set of controls used in genomic studies. They recently finished what was termed as “Phase 1” of the project, and they have been releasing full sets… Read more »