Golden Helix Newsletter

 
CIO Review
CADD Scores: Rank and Filter in Harmony!
by Gabe Rudy,
VP of Product & Engineering


There used to be much energy expended at conferences, bioinformatics forums and even publications about what was the better strategy for interpreting variants of clinical significance: Rule-based filtering and classification mechanisms or rank-based prioritization through all-encompassing "pathogenicity" scores.

Both have shown to be effective.
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Education eBook

Are you at ESHG 2016?
Come visit us at booth 378!

Tomorrow, Golden Helix will arrive in Barcelona, Spain to attend the 2016 European Society of Human Genetics Conference (ESHG). It has been some time since our team has been represented at ESHG and we are thrilled to see some of our European customers and meet some new faces in the community.

Gabe Rudy, our VP of Product & Engineering, will host a series of demos in booth #378 over the course of the three days that the exhibit hall is open. The demos will span both research and clinical workflows and range in topics from GWAS and Meta-Analysis to clinical testing and data warehousing. We hope you will stop by!

Get a full demo schedule here.

VarSeq Reports Templates
N-of-One Integration comes to VSReports
by Hauwa Yusuf,
Field Application Scientist


If you or your lab uses N-of-One solutions for clinical annotations, here's some good news: You can now submit directly to N-of-One from VarSeq! N-of-One's set of preferred transcripts may differ from those outputted by our algorithms in VarSeq, so our solution was built with that in mind. Our slick, easy to use, and specialized N-of-One report template is designed to prepare variants for submission according to N-of-One's reporting specifications. This is more than just a template, this is a self-contained report generating program that utilizes N-of-One's APIs and our advanced VSReports engine. Here are the main features:
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Customizing Workflows for Family Structure
by Jami Bartole,
Field Application Scientist


During the webcast yesterday, I demonstrated a few ways of customizing de Novo Candidate and Compound Heterozygous Candidate workflows to consider family structure that was slightly different from the default trio workflow. The families included additional affected and unaffected siblings added to a trio as well as looking at what could be done if there were only two affected siblings and no parents.

Each custom workflow in VarSeq used different existing features and some soon to be released features to filter and prioritize variants. Additionally, we used a customized Clinical Report template to showcase reporting variants from a Quad analysis.
Continue reading »

GBS Workflows
Solving the Eigenvalue Decomposition Problem for Large N
by Greta Linse Peterson,
Director of Services


Since our introduction of the mixed model methods in SVS, along with GBLUP, we have been very pleased to see it used by a number of customers working with human and agri-genomic data. As these customers have grown their genomics programs, the number of samples they have for a given analysis has been growing, and at times exponentially!

Up to this point, scaling these algorithms has just been about doing the analysis on an adequately large computer (specifically one with sufficient memory to hold these large N2 matrices, where N is the number of samples).
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   CEO Corner
Andreas Scherer
There is a substantial uptake in the adoption of NGS testing pipelines in large hospitals and testing labs. Many of our prospects have been surprised by a significant rise in their operational budgets due to per sample charges. Most of our competitors have adopted this pricing scheme. We choose not to follow this model, instead we provide an affordable, annual subscription for our clinical stack. With our customer's success in mind, we are offering very aggressive terms until the end of this quarter to allow labs an easy entry into the testing space. Please take a look at our different offers to see if one them meets your needs.

  Special Offer!
Bundle Offer
Limited Time Offer on VarSeq Packages

From research labs to NCI cancer labs to clinical testing labs, VarSeq has been gaining significant traction. VarSeq saves labs time and money by providing a proven and integrated testing pipeline from VCF to clinical report.

This entire solution is offered at an affordable annual subscription license. Our users are gaining efficiency and saving tens of thousands of dollars by avoiding per sample charges. In times of uncertain funding and tight budgets, we are providing unbeatable offers to bring efficiency and savings to your lab.

Small Lab Starter Package - Save with a VarSeq & SVS bundle!
VSReporting Package - Access to VSReports and 2 seats of VarSeq with CADD, OMIM & OncoMD included!
Warehouse Package - VSWarehouse, VSReports and VSPipeline all bundled into one to create a fully integrated analytics solution!

See the details & pricing for all three special offers here!

   Customer Success
As always, we are happy to share that several of our customers published their work this month. It is always exciting to see what new studies have been completeted, so here are a few highlights for you to check out:


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About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research and clinical 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, clinical laboratories, 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 precision medicine. Golden Helix products and services have been cited in over 1,000 peer-reviewed publications.