Golden Helix Newsletter

The Next Phase in Our Evolution
by Dr. Andreas Scherer, President and CEO

Dr. Andreas Scherer
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, we at Golden Helix helped researchers analyze data, discover variations and draw conclusions. It turns out that the real bottleneck in this process is the ability to analyze and complete conclusive research work.

Over the last decade, I have spent significant time working with Fortune 500 pharmaceutical, biotech, and medical device companies to accelerate their R&D. Speeding up complex processes, utilizing the latest technology, and providing researchers the best possible information at their fingertips were key to accomplishing significant improvements in cycle time of major R&D efforts. My experience in increasing R&D productivity will now be applied at Golden Helix. Continue reading »

The Murky Waters of Variant Nomenclature - You Could Be Missing Vital Information
by Mike Thiesen, Software Engineer
Variant Nomenclature

When researchers realized they needed a way to report genetic variants in scientific literature using a consistent format, the Human Genome Variation Society (HGVS) mutation nomenclature was developed and quickly became the standard method for describing sequence variations. Increasingly, HGVS nomenclature is being used to describe variants in genetic variant databases as well. There are some practical issues that researchers should keep in mind when using HGVS notation with databases or any other sort of automated tool. Continue reading »

Special Discount – TCGC: Clinical Genomics Conference (don't miss @gabeinformatics' next short course!)
by Josh Forsythe, VP of Marketing

Gabe's next short course will be at TCGC in San Francisco on June 25-28: "The Analysis and Interpretation of My DTC 23andMe Exome." During this course, Gabe will lead attendees through the various bioinformatic processes and tools he used to analyze his family's trio. TCGC is offering a special discount! Continue reading »
   Upcoming Webcast
Knowing Your NGS Downstream:
Functional Predictions

  Wed, May 15
12:00 pm EDT

This presentation will review several of the functional prediction tools that are currently available to help researchers determine the functional consequences of genetic alterations including SIFT, PolyPhen-2, MutationAssessor, and FATHMM.

Webcast Registration

   Featured SVS Script
Copy Values into User Notes
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SVS 7.7.5 Features New Blazing Fast VCF Importer
About the new VCF importer »
SVS 7.7.5 Release Notes »

GenomeBrowse Now Supports VCF Files
More info on viewing VCFs »
Download FREE GenomeBrowse »

Where will we see you next?
TCGC Annual Clinical Genome Conference
San Francisco, CA  |  Jun 25-28

Providence, RI  |  Aug 19-20

Chicago, IL  |  Sep 15-17

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Recent Customer Success Highlights

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease
Kirino, Y et al.
National Human Genome Research Institute, NIH
Read the article »

Lymphatic and Angiogenic Candidate Genes Predict the Development of Secondary Lymphedema following Breast Cancer Surgery
Miaskowski, C et al.
University of California - San Francisco
Read the article »

Pharmacogenomics Journal
Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent
Aminkeng, F et al.
University of British Columbia, Canada
Read the article »

About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research and translational medicine for 14 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 750 peer-reviewed publications.


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