Golden Helix Newsletter

 
Back to Basics: Using GWAS to Drive Discovery for Complex Diseases
Webcast by Dr. Bryce Christensen, Statistical Geneticist

GWAS webcast
Genome-wide association studies (GWAS) have been providing valuable insight to the genetics of common and complex diseases for nearly 10 years. Despite some assertions to the contrary, GWAS is not dead. GWAS is alive and well, and remains a viable technology for genetic discovery.

In this best practices webcast, Dr. Bryce Christensen covered: GWAS data formats, usability, and data management techniques, imputation (myths, facts, and when to use it), quality assurance, genotype association testing and statistics, and visualizations including Manhattan Plots, linkage disequilibrium plots, and genomic annotation sources.
Watch now »

All I Want for Christmas is a New File Format for Genomics
by Gabe Rudy, VP of Product Development
All I Want for Christmas is a New File Format for Genomics

Tis the season of quiet, productive hours. I've been spending a lot of mine thinking about file formats. Actually I've been spending mine implementing a new one, but more on that later. File formats are amazingly important in big data science. In genomics, it is hard not to be awed by how successful the BAM file format is.

I'd speculate that Heng Li's binary file format for storing alignments of short reads to a reference genome is responsible for more bytes of data being stored on the cloud (and maybe in general) than any other file format in the mere 4 years since it was invented. Continue reading »
 
   CALL FOR ABSTRACTS
As part of its ongoing commitment to empowering genetic researchers around the world, Golden Helix is hosting a research competition. All academic, government, and commercial organizations working with genetic data (regardless of species or location) are invited to apply.

Each entrant will receive a free Golden Helix t-shirt. Three winners will receive a copy of SVS and the grand prize winner will get a Dell Latitude Ultrabook!

Learn more »


   Featured Case Study
Rick Kittles, PhD Uses Golden Helix Software to Identify Novel Genetic Variations for Complex Diseases that Disproportionately Impact African-American and Hispanic Populations
Read more »

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Recent Customer Success Highlights

Frontiers in Psychiatry
Rare genomic variants link bipolar disorder with anxiety disorders to CREB-regulated intracellular signaling pathways
Kerner, B and Christensen, G et al.
University of California, Los Angeles
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PLoS ONE
Severe Painful Vaso-Occlusive Crises and Mortality in a Contemporary Adult Sickle Cell Anemia Cohort Study
Darbari, D et al.
Children's National Medical Center
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American Journal of Medical Genetics
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload
Swoboda, K et al.
University of Utah
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About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research and translational medicine for 15 years. Our innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from microarrays and next-generation sequencing. With our solutions, hundreds of the world's top pharmaceutical, biotech, and academic research organizations are able to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine. Golden Helix products and services have been cited in over 800 peer-reviewed publications.

 



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