Golden Helix Newsletter

My 23andMe Trio Exomes Arrived: Sneak Peek
by Gabe Rudy, Vice President of Product Development
Gabe and his family

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. It all began two years ago on DNA day when Hacker News reported that 23andMe was running a special deal on their personal SNP-array genotyping and interpretation service. Looking across the room at my 7 month pregnant wife, I smiled and pulled out my credit card. I then proceeded to enter in its numbers 3 times. Thankfully 23andMe allowed for returning your spit-in-a-tube DNA up to 6 months from the purchase of your order. Given one of my spit providers was my yet-to-be-born son, this was a very fortuitous policy. Minus the frustrations of getting a newborn to provide what seems like a million little droplets of spit, the 23andMe customer experience turned out to be really quite entertaining and useful. Continue reading »

One Track to Rule Them All: Close by not quite from the 1000 Genomes Project
by Gabe Rudy, VP of Product Development

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. My high hopes are well justified. After all, the 1000 Genomes Phase 1 project completed at the end of 2010, and they have released their catalog of computed variants and corresponding population frequencies at least five times since. Continue reading »

Meet Sam Gardner: Software Engineer at Golden Helix
Sam Gardner

When I was very young, my mother wasn't employed outside the house. As a direct result I spent a lot of time around her. She has always shown the sort of practical efficiency for getting things done that one might expect from a super-mom. Despite the never-ending string of demands for her time, she manages to maintain an enthusiastic curiosity of all things and an especially inspiring appreciation for nature. This was, I think, the first ingredient contributing to my interest in what I do. Continue reading »
   Featured Webcast
Identification of Candidate Functional Polymorphism Using Trio Family Whole Exome DNA Data
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   New SVS Scripts
Subset Informative Genotypes by Category
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Build Sample Collated Spreadsheet
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Technical Support Bulletins
Check out our new technical support bulletins for up-to-date information on SVS scripts, bug fixes, and more!
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GenomeBrowse Available on September 12th!
Golden Helix's free genome browser raises the bar on the experience of exploring and finding key insights into your genomic data.
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Recent Customer Success Highlights

CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies
Cao, D et al.
National Eye Institute, Maryland
Read the article »

European Journal of Medical Genetics
GWAS reveals new recessive loci associated with non-syndromic facial clefting
Camargo, M et al.
Population Genetics and Mutacarcinogenesis Group, Colombia
Read the article »

Human Genetics
Genome-wide analysis of copy number variations reveals that aging processes influence body fat distribution in Korea Associated Resource (KARE) cohorts
Lee, B et al.
Seoul National University, Korea
Read the article »

Association of Caucasian-Identified Variants with Colorectal Cancer Risk in Singapore Chinese
Thean, L et al.
National University of Singapore
Read the article »

About Golden Helix
Founded in 1998, Golden Helix is known for helping genetic research groups working with large-scale DNA-sequencing or microarray data overcome the frustration and challenges of bioinformatic roadblocks: delayed projects, lack of quality findings, and low productivity. By empowering researchers with highly effective software tools, world-class support, and an array of complementary analytic services, we refute the notion that analysis has to be difficult or time consuming. Golden Helix's flagship software product, SNP & Variation Suite (SVS), is an integrated collection of powerful data management, quality assurance, visualization, and tertiary analysis tools for genetic data. SVS is delivered in a user-friendly, scalable platform and is supported by a team of highly trained bioinformaticians, statistical geneticists, and computer scientists that together make advanced statistical and bioinformatic methods accessible to scientists of all levels.


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