Golden Helix Newsletter

 
Precision Medicine
Precision Medicine – Part I
by Dr. Andreas Scherer,
President & CEO


On January 30, 2015, the Precision Medicine Initiative was announced by President Obama. Many in our field, researchers and clinicians alike, recognize that such a program would bring additional funding into our space to design, develop and implement new diagnostic tests that are aiding physicians in their practice of precision medicine. Here is what we know.

Led by the National Institutes of Health (NIH), the President's initiative intends to fund research and facilitate collaborative public-private efforts to leverage advances in genomics. It would involve stakeholders in healthcare as well as the Food and Drug Administration (FDA), Health and Human Services (HHS) and the Office of the National Coordinator for Health Information Technology (ONC).
Continue reading »

Precision Medicine Part II – Reimbursement and Cost
by Dr. Andreas Scherer,
President & CEO


The promise of Precision Medicine is to leverage highly targeted therapies for the benefit of the patient. By understanding better what makes us unique and leveraging our genetic make up, we hope to improve the outcome for the individual. Now, this blog is focusing on one issue that we collectively have to overcome to make precision medicine a reality. And this issue is simply: Cost.

For some time, lung cancer has turned into the poster child for precision medicine. At this point it is considered standard care for stage IV patients to identify targetable oncogenic drivers. Continue reading »

Rich local notes in VarSeq
Unique Labs, Common Tool: Making VarSeq Ready for Clinical Workflows
by Gabe Rudy,
VP of Product &Engineering


As VarSeq has been evaluated and chosen by more and more clinical labs, I have come to respect how unique each lab's analytical use cases are.

Different labs may specialize in cancer therapy management, specific hereditary disorders, focused gene panels or whole exomes. Some may expect to spend just minutes validating the analytics and the presence or absence of well-characterized variants. Others expect every case to have its unique aspects, a puzzle to unravel with as many resources as possible as guides.Continue reading »

Our Top 5 Most Visited Blog Posts
by Cheryl Rogers,
Director of Marketing


Over the last year our blog has seen a boom in visits and of course, I became curious. What brings people to "Our 2 SNPs…"? So, I decided to take a look at the blog posts that our community find the most intriguing. Here are my findings:

  • Comparing BEAGLE, IMPUTE2, and Minimac Imputation Methods for Accuracy, Computation Time, and Memory Usage - As the title hints at, this blog posts compares imputation methods. So which method takes the prize? All programs outperformed others in certain areas, so it really depends on your specific needs.
Continue reading »

GenomeBrowse

Visually Filtering Data in GenomeBrowse
by Ashley Hintz,
Field Application Scientist


Over 650 GenomeBrowse licenses have been registered and downloaded since the beginning of 2015, and with so many people enjoying the utility of this freeware program, I wanted to showcase some advanced tips and tricks so you can get more out of GenomeBrowse!

Under the Controls panel, when you're clicked inside a data plot there is a "Filter" tab. This filtering option allows you to filter your data to create visualizations for publication or to manually inspect your data. Continue reading »

 
   Latest Webcast
VarSeq as a Clinical NGS Platform
The focus of VarSeq has always been to take the sometimes complex task of annotating and prioritizing variants and make it simple, intuitive and repeatable.The power of VarSeq's project-based repeatable workflows has already been adopted by clinical labs such as NorthShore University HealthSystem and Prevention Genetics, and we continue to build features to support the compliance and data privacy requirements of a clinical environment.

This webcast highlights some of the new features for supporting gene panel screenings and rare variant diagnostics including: harmonizing filtering and ranking approaches to prioritize variants with the phenotype-based gene ranker, tracking a lab's variant assessments in a centralized database that's easy to customize and never forgets previous assessments, and capturing the analysis process used and snippets or screenshots of interest in the project note editor.
View recording »


   Customer Success


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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 over 16 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 850 peer-reviewed publications.