Golden Helix Newsletter

 
"Precision Medicine": Moving Next-Generation Sequencing into the Clinic Today
by Dr. Andreas Scherer, President & CEO

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 prognosis in 2010 was very dire. Three months. Lung Cancer. As I write this article, Ms. Carey is still alive because they were able to prescribe a drug based on the results of sequencing her tumor. It turned out that Ms. Carey has one of at least 15 lung cancer variations, which were classified in the last decade using next-generation sequencing of tumors. According to the WSJ: "Doctors now talk about a 'precision medicine' approach in which those pinpoint drugs can treat tumors far more effectively than catchall chemotherapy." Continue reading »

Finding Rare Pieces of Hay in a Haystack
by Christina Castellani, The University of Western Ontario
Christina Castellani

Utilizing Identical Twins Discordant for Schizophrenia to Uncover de novo Mutations

We are living in exciting times the reality of high-resolution microarrays and individual genome sequencing now offers renewed hope in the search for the causes of complex diseases. When this technology is combined with genetic relationships, individual sequences add unrivaled proficiency. Our lab is located in London, Ontario, Canada at the University of Western Ontario, and our interest is in elucidating aspects of the underlying genetic mechanisms contributing to complex disease. Continue reading »

SVS Workflow Automation Webcast: Your Questions Answered
by Autumn Laughbaum, Biostatistician
SVS Workflow Automaion Webcast

Last week, we presented a webcast on Workflow Automation in SVS. If you were unable to attend, a recording of it is on our website. In this post I'll respond to some of the questions we were unable to answer within the allotted time. Continue reading »
 
   Latest Webcast
Making NGS Data Analysis Clinically Practical: Repeatable and Time-Effective Workflows

In this presentation, we introduce custom workflow automation in SVS, which allows you to collapse dozens of steps into a few run-specific options. This click-and-go process saves an exponential amount of time while eliminating the inevitable user error that happens with tedious repetition.

View recording »


   Featured SVS Script
Subset by Chromosome
Download » | Script repository »


   SNP-ITS
SVS 7.7.8 Provides Enhanced Documentation, Bug Fixes, and Polish
SVS 7.7.8 Release Notes »

Where will we see you next?
XXIst World Congress of Psychiatric Genetics
Boston, MA  |  Oct 17-21

American Society of Human Genetics (ASHG) Annual Meeting
Boston, MA  |  Oct 22-26


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Recent Customer Success Highlights

Human Molecular Genetics
Common CYP2D6 Polymorphisms Affecting Alternative Splicing and Transcription: Long-range Haplotypes with Two Regulatory Variants Modulate CYP2D6 Activity
Wang, D et al.
The Ohio State University
Read the article »

PLoS ONE
A Genome-Wide Association Study of Total Serum and Mite-Specific IgEs in Asthma Patients
Kim, J et al.
Sogang University
Read the article »

Expert Review of Molecular Diagnostics
Clinical analysis of genome next-generation sequencing data using the Omicia platform
Coonrod, E et al.
ARUP Institute for Clinical and Experimental Pathology
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 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 750 peer-reviewed publications.

 



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