Golden Helix Blog

A Hitchhiker’s Guide to Next Generation Sequencing – Part 1

Nov 15, 2010

If you have had any experience with Golden Helix, you know we are not a company to shy away from a challenge. We helped pioneer the uncharted territory of copy number analysis with our optimal segmenting algorithm, and we recently handcrafted a version that runs on graphical processing units that…

Read more →

Recent Publications on Bladder Cancer, Schizophrenia, Childhood IgA Nephropathy, and Ancestry Markers

Nov 5, 2010

Recognition this month begins with Eric Londin at Coriell Institute for Medical Research for his publication in PLoS ONE: “CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins.” (Abstract below). Also recently published in PLoS ONE is Chiara Magri with Brescia University School of Medicine on her…

Read more →

Conference Report: International Genetic Epidemiology Society and Genetic Analysis Workshop

Oct 27, 2010

The week of October 10-16th was a busy time in our industry.  Hundreds of biostatisticians, genetic epidemiologists, and statistical geneticists gathered in Cambridge, MA for the annual conference of the International Genetic Epidemiology Society (IGES) on October 10-12, followed by the biennial Genetic Analysis Workshop (GAW) on October 13-16.  I…

Read more →

Video Graphics and Genomics: A Real Game Changer?

Oct 20, 2010

Why should a genetic researcher care about the latest in video gaming technology? The answer is video graphics cards or Graphics Processing Units (GPUs). For certain computational tasks, a single GPU can perform as well as an entire cluster of CPUs for only a fraction of the cost. And because…

Read more →

Four New Add-on Scripts Available for Strand Flipping, Histogram Means, and Chi-Squared Calculation

Oct 14, 2010

The scripting environment in SVS 7 allows for cross-communication between the powerful Python scripting language and the tools used in data analysis. Scripting is often the most effective way to make new features available to customers prior to new software releases. We often write scripts based on a specific customer’s…

Read more →

Best Practices for Incorporating Public Genotype Data in Your Study

Oct 12, 2010

The Golden Helix sales team recently came to me for recommendations regarding best practices for incorporating public controls in SNP GWAS.  It seems that there has been a surge of questions regarding this practice over the past few weeks from our customers.  Initially, I laughed at the irony of being…

Read more →

Recent Publications on Ankylosing Spondylitis, Asthma, Heroin Dependence, and Lupus

Oct 6, 2010

It’s been a busy month for the genetics community, and Golden Helix customers are no exception. First in the line up, congrats to Marta Artieda with Progenika Biopharma in Spain for her work on “Association of the Intergenic Single-Nucleotide Polymorphism rs10865331 (2p15) with Ankylosing Spondylitis in a Spanish Population” in…

Read more →

Stop Ignoring Experimental Design (or my head will explode)

Sep 29, 2010

Over the past 3 years, Golden Helix has analyzed dozens of public and customer whole-genome and candidate gene datasets for a host of studies.  Though genetic research certainly has a number of complexities and challenges, the number one problem we encounter, which also has the greatest repercussions, is born of…

Read more →

Report from Capita Selecta in Complex Disease Analysis Conference in Belgium

Sep 14, 2010

How much fun is a person allowed to have when going to a conference? That kind of sums up my personal experience going to the first ever Capita Selecta in Complex Disease Analysis (bi-annual) conference in Leuven, Belgium. Not only was it fun, but the conference program was packed with…

Read more →

Recent Publications on Late-Onset Sporadic Parkinson’s and Renal Cell Carcinoma

Sep 1, 2010

We’re inspired by significance. Every tool we develop and every service we deliver is designed to help our customers achieve significance in their research. Not only statistical, but scientific and personal significance as well. The icing on the cake is being able to share what our customers do and discover…

Read more →

Missing Heritability and the Future of GWAS

Aug 26, 2010

“Where is the missing heritability?” is a question asked frequently in genetic research, usually in the context of diseases that have large heritability estimates, say 60-80%, and yet where only perhaps 5-10% of that heritability has been found. The difficulty seems to come down to the common disease/common variant hypothesis…

Read more →

The What, Why, and How of Creating a Genome Map

Aug 10, 2010

Including the completion of the Human Genome Project in 2003, scientists have created whole genome sequence maps for over 1,000 species. From maize to oysters, the quest to investigate different species’ genetic code continues. Mapping is the “first step” that provides a baseline for further study into differences between species,…

Read more →

Rising Above Uncertainty: Increasing Clinical Yield in Array-Based Cytogenetics

Jul 27, 2010

As Andy Ferrin and I drove the five-hour car ride home from a cytogenetics conference, we had a lot of time to reflect on the persistent themes we heard in presentations and dialog among conference attendees. Taking somewhat of an outsider view, we traced each complaint, each sigh of frustration,…

Read more →

Enhanced ROH Analysis Improves Effectiveness to Identify Rare, Penetrant Recessive Loci

Jul 22, 2010

In the paper Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia, Todd Lencz, Ph.D. introduced a new way of doing association testing using SNP microarray platforms. The method, which he termed “whole genome homozygosity association”, first identifies patterned clusters of SNPs demonstrating extended homozygosity (runs of homozygosity or…

Read more →