Category Archives: Big picture

Bryce Christensen

A few thoughts from IGES

Late last month I had the opportunity to attend one of my favorite events: the annual meeting of the International Genetic Epidemiology Society (IGES).  This year’s conference was held in Vienna, in conjunction with the Genetic Analysis Workshop (GAW) and … Continue reading

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Andreas Scherer

False Positives in Big Data Analytics

We had a lot to celebrate recently. Last year was the 300th anniversary of Jacob Bernoulli’s Ars Conjectandi. In this book he consolidated central ideas in probability theory, such as the very first version of the law of large numbers. It was also … Continue reading

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Andreas Scherer

Leveraging SVS for NGS Workflows

Over the last decade, DNA sequencing has made vast technological improvements. With the cost of sequencing decreasing significantly, sequencing technology has become a product for the masses. The sequencing technology and programs that were once used exclusively by major research … Continue reading

Posted in Best practices in genetic analysis, Big picture, Bioinformatic support, Clinical genetics, Uncategorized | Tagged , , , , , , | Leave a comment
Gabe Rudy

RefSeq Genes: Updated to NCBI Provided Alignments and Why You Care

You probably haven’t spent much time thinking about how we represent genes in a genomic reference sequence context. And by genes, I really mean transcripts since genes are just a collection of transcripts that produce the same product. But in … Continue reading

Posted in Best practices in genetic analysis, Big picture, Bioinformatic support, General statistical genetics principles, Technology review, Uncategorized | Tagged , , , | 3 Comments
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
Andreas Scherer

Adding Value Through Golden Helix Services

As I write this article, Golden Helix has hundreds of clients in top research institutions world-wide. The adoption of our product at these institutions ranges from a few individual users to site licenses used by entire organizations. Because of the … Continue reading

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Andreas Scherer

Preparing the Next Generation of Genetic Researchers

New breakthroughs are being made every day in genomics. It’s a dynamic and fascinating industry, and with exceptional growth forecast in the DNA sequencing market, a new generation of people are entering the field: future researchers, clinicians, counselors and doctors. … Continue reading

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Andreas Scherer

The Next Chapter of Golden Helix: Our Launch of SVS 8

Today is a big day for us. Today we are announcing a major release of our flagship product, SNP & Variation Suite (SVS), to the general public. SVS 8 is a substantial improvement over the previous release in a number … Continue reading

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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

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Andreas Scherer

The Next Phase in Our Evolution

Time goes by fast. With the completion of the Human Genome Project in 2003, scientists worldwide were trying to understand the cause and effect of variations in the genome as they relate to functionalities, traits and disease. Along the way, … Continue reading

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