Golden Helix Newsletter

GATK is a Research Tool. Clinics Beware.
by Gabe Rudy, Vice President of Product Development

Complete Genomics Caller
In preparation for a webcast 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. So recently, I was happy to see a message in my inbox from the 23andMe exome team saying they had been continuing to work on improving their exome analysis and that a "final" analysis was now ready to download. This meant I had both an updated "variants of interest" report as well as updated variant calls in a new VCF file. I'll get to the report in a second, which lists rare or novel variants in clinically associated genes, but first let's look at what changed in the variant calls. Continue reading »

NATURE NEWS BLOG: Expert Tours His Own Exome, and Finds Mainly False Alarms
by Monya Baker, Reporter for Nature magazine
Nature News Blog

When 23andMe offered a few select clients the opportunity to have the protein-encoding portion of their genome sequenced, Gabe Rudy jumped at the chance. On Wednesday, he walked strangers through the results. His conclusion: most detected genetic "variants of interest" are either not variants or not interesting. "Clinics beware," he writes in a blog post detailing the analysis. Continue reading on Nature News Blog »

GenomeBrowse™ Now Available in Illumina's BaseSpace Apps

GenomeBrowse is a revolutionary genomic visualization and annotation platform for DNA and RNA sequence data, which now allows researchers to view and explore their BaseSpace data on the cloud without having to download it first. As the data deluge becomes more problematic due to NGS costs dropping, researchers are turning to cloud-based solutions to host and manage their data.
BaseSpace »  |  GenomeBrowse »  |  Read the press release »

   Featured Webcast
23andMe Exome Sequence Analysis of My Personal Trio

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   New SVS Script
Build Variant Spreadsheet
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Improved RNA-Seq Analysis Package Available
Advanced analysis tools designed to perform differential expression workflows for RNA expression profiling experiments. Continue reading »

SVS 7.7 Released
Includes streamlined DNA-Seq workflows, a better CGI import tool, and much more.
Continue reading »

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Recent Customer Success Highlights

Genes & Immunity
Variation in the TLR10/TLR1/TLR6 locus is the major genetic determinant of interindividual difference in TLR1/2-mediated responses
Mikacenic, C et al.
University of Washington
Read the article »

Human Genetics
Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population
Park, B et al.
SNP Genetics, Inc.
Read the article »

Risk of developing chronic lymphocytic leukemia is inrfluenced by HLA-A class I variation
Di Bernardo, M et al.
Institute of Cancer Research, UK
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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