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Golden Helix Newsletter

 
VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs
VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs
by Gabe Rudy
VP of Product & Engineering


This year we have released multiple advances to support CNV analysis in VarSeq, expanding our target region based VS-CNV caller to handle exomes and low-depth genomes as well additional supporting algorithms like calling Loss of Heterozygosity regions. To top this off, VarSeq 1.4.7 has been shipped with many expanded capabilities to support the analysis, cataloging, and reporting of the CNVs called in VarSeq. These include a new set of annotation algorithms and expanded annotation catalogs designed specifically for CNV and other region based data, as well as updates to the Assessment Catalog to store CNVs, regions, and per-sample information..... Continue Reading

New VarSeq Single Exome Demo Project
Annotation Education Series: Frequency, Functional Prediction, and Gene Annotations
by Darby Kammeraad
Field Application Scientist


In our final chapter of this variant annotation blog series, we will discuss additional annotations that provide powerful variant filtering and analysis capability. Golden Helix curates many annotations in a way that allows for simple analysis and saves the users the hassle of all this data management. Whether you are trying to capture rare variants known across multiple subpopulations in frequency tracks, finding the potential effect of any variant with functional prediction databases, or merely getting in-depth gene level information, we cover it all. Let’s take a look in more detail at some commonly used tracks, starting with those focused on allele frequency..... Continue Reading »

Annotation Education Series: Clinical Assessment Tracks
Case Study: iTARGET Autism Project
by Delaina Hawkins
Content Marketing Manager


Dr. Suzanne Lewis is a Clinical Professor in the Department of Medical Genetics at University of British Columbia (UBC) and Senior Investigator at British Columbia Children’s Hospital Research Institute (BCCHR), Vancouver, Canada. She is also the Chair of the iTARGET Autism Project and Vice-Chair of Autism Canada Chief Medical Officer and VP Research of Pacific Autism Family Network. She and her team are focusing on earlier and more accurate diagnoses, management and treatment of Autism Spectrum Disorders (ASDs) using genetic, genomic and comprehensive phenotyping studies to explore the causes and development of ASDs. iTARGET (or Individualized Treatments for Autism Recovery using Genetic-Environment Targets) Autism is Canada’s first family-centered, genetics-based initiative that fully integrates the research, clinical and patient communities within British Columbia. ... Continue Reading »
 
   CEO Corner
Andreas Scherer
We just returned from ASHG 2017 held in Orlando, FL. It was a terrific opportunity to meet with customers, partners, and prospects. We were delighted to show our lastest CNV capabilities along with our tested and proven clinical reporting and data warehousing solutions. Now, we are heading into the final months of the year. We designed several very attractive end of year bundles that might be interesting for you. And, if you're heading to APCHG 2017 please let me know. I would be delighted to meet with you in Bangkok.

  Latest Webcast

VS-CNV Annotations from the User's Perspective


Next-generation sequencing has enabled clinicians and researchers alike to identify novel genetic variants associated with rare Mendelian Diseases across the human genome. To help enable researchers and clinicians understand the role of CNVs in human health and disease, Golden Helix has a fully integrated CNV annotations to provide clinicians and researchers with more effective methods to identify pathogenic CNVs for heritable diseases. In this webcast, we will present our comprehensive clinical workflows that integrates the annotating and reporting of high-quality CNV alongside their existing NGS variants. Watch the webcast here.

   Customer Success
We're always blown away by the amount of client publications we come across! Here are this month's featured articles:
See our full list of publications here!
 
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About Golden Helix
Golden Helix® is a global bioinformatics firm founded in 1998. Our largest outside investor is GlaxoSmithKline who invested early on into the company. We develop and sell an industry leading clinical solution that supports the analysis of sequencing data and the creation of clinical reports. Clinicians and researchers worldwide trust our solution. Over all these years we have accumulated a significant customer base conducting business with over 350 organizations globally with thousands of users leveraging our various analytics products. Our customers fall into five categories: Large Hospitals, Genetic Testing Labs, Pharmaceutical companies, major research organizations, and government organizations here in the US and internationally. Our work his referenced in over 1,100 publications such as Science, Nature and Nature Genetics.



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