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Golden Helix Newsletter
Secondary Analysis 2.0 eBook Version 2
Secondary Analysis 2.0 eBook Version 2
by Andreas Scherer, Ph.D.
President & CEO

Download a free copy of the updated eBook here.

Golden Helix spearheaded the development of commercial grade algorithms and methods that allow the analysis of CNVs in gene panels, clinical exomes and whole genomes side by side with the standard SNV analysis. This eBook captures the essential concepts in this field. It also shows what an integrated analysis looks like in practice. The research that led to the development of VS-CNV and that is reported in this eBook was supported by the National Institute of General Medical Sciences of the National Institutes of Health under Award Number R43GM125432. Continue Reading

New & Improved ClinVar Annotations
New & Improved ClinVar Annotations
by Cody Sarrazin, Ph.D.
Product Specialist Scientist

This year marks an update to the ClinVar methodology. Now, the updated VCF file includes all the variants and no longer relies on the dbSNP VCF writer. They also compacted the annotation fields so that all the previous information was collapsed into one variant entry. One of the multiple entry variants is shown below with one entry on the top from the new VCF file format and the previous style with multiple entries shown on the bottom.
Continue Reading �

Abstract Competition Winners
Small-Lab VarSeq PowerPack

Expires Friday, March 30th.

This package enables users to move their analysis from FASTQ to clinical reporting through one streamlined pipeline.

Learn more about this offer �
   CEO Corner
Andreas Scherer
We�ve published a new version of our Secondary Analysis 2.0 eBook to include some new material on the development research that led to VS-CNV. This research was supported by the National Institute of General Medical Sciences of the National Institutes of Health under Award Number R43GM125432. We�re extremely grateful for this support from the NIH that allows us to accelerate our development cycles. ACMG is right around the corner! If you are attending this year, I highly encourage you to stop by our booth (#1306) for some interesting announcements we'll be revealing at the conference. I'll leave it at that for now and look forward to hopefully seeing you there!
  Upcoming Webcast

Fine-tuning CNV Analysis for the Clinical Analysis of NGS Samples

April 4, 2018 | 12:00 PM Eastern

Register for the webcast

Copy number variations (CNVs) are associated with a variety of genetic disorders including autoimmune diseases, autism, and cancer. VS-CNV gives clinicians and researchers the ability to detect both large and small CNV events, annotate them against a wide array of useful data sources, and perform filtering to obtain a small set of clinically relevant variations. In this webcast, we will discuss methods for adjusting algorithm sensitivity, leveraging CNV assessment catalogs, and excluding problematic CNV calls.
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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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