Golden Helix Blog

CNV Analysis in VarSeq – A User’s Perspective

Apr 6, 2017

We are pleased to announce our next webcast, CNV Analysis in VarSeq – A User’s Perspective. The live event is is scheduled for Wednesday, April 19th at noon EST. Here are the specifics: Wednesday, April 19th 12:00 pm EST Clinical labs must have the ability to go from a collection…

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Updating VarSeq’s Transcript Annotation along with NCBI RefSeq Genes Interim Release

Mar 30, 2017

It may be possible to say that annotating a variant correctly and accurately against gene transcripts is the most important job of a variant annotation and interpretation tool. We take it very seriously at Golden Helix as we support VarSeq and its use by our customers in both research and…

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Final thoughts on ACMG 2017

Mar 28, 2017

Last week was fast and furious for those of us who made it to Phoenix attending ACMG 2017. The event was exceptionally well attended, with great talks and sessions. Here are some of the highlights that are worth mentioning from our perspective. Numerous talks referenced how important the updated Exac/gnomAD…

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WES Research at Stanford University

Mar 23, 2017

Join our upcoming webcast : Wednesday, April 5th 12:00 pm EST Dr. Reza Sailani is a Research Fellow in the Genetics department at Stanford University. To provide an overview of his research, Sailani will present on the following two recent studies he has conducted: Association of AHSG with alopecia and mental…

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PreventionGenetics adopts Golden Helix CNV analysis

Mar 21, 2017

Today, I am happy to announce the introduction of VS-CNV for Gene Panels and Exomes. We have developed this capability in partnership with PreventionGenetics. PreventionGenetics will use VarSeq CNV for analysis of gene panels, and in the future for exome sequencing. The software gives PreventionGenetics the opportunity to conduct a comprehensive CNV…

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We’re heading to Phoenix for ACMG 2017

Mar 16, 2017

ACMG 2017 is just around the corner! We are halfway through March already and it’s just about time to head off to sunny and warm Phoenix, Arizona. While the temps have been mostly mild for the last few weeks in Montana, I bet those of you in the northeast are…

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Coming Soon! The genome Aggregation Database (gnomAD)

Mar 15, 2017

Ever since the MacArther Lab announced the new gnomAD browser at last year’s ASHG conference, we have had many requests from our customers to make this new variant frequency source available within both VarSeq and SVS. This new dataset includes variants obtained from 123,136 exome sequences and 15,496 whole-genome sequences.…

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Paying Attention to the Quality Fields in ExAC: A Case Study

Mar 7, 2017

In the past couple of weeks, the topic of the Filter and Quality fields in the popular ExAC population catalog has come up a number of times in discussions around NGS analysis software workflows. It turns out that unlike the 1000 Genomes project, which decided to very heavily filter their…

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Golden Helix Among Top Biotech Solutions

Feb 28, 2017

CIO Review recently published its annual Biotech Technology Special Edition announcing the 20 most promising biotech technology solution providers. It is a great honor that Golden Helix has been named among the top 20 for the second year in a row! Please find my interview with the editor here: Spearheading Innovation in the Biotech Industry …

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4th Annual Abstract Challenge Winners

Feb 23, 2017

This year’s annual Abstract Challenge was once again a successful event. We want to thank all that participated. This year we had nearly 50 submissions and our decision was a difficult one. Here are the selected winners. This year, we had dual first place winners; Reza Sailani and Jingga Inlora of…

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Calling Large LOH and CNV Events with NGS Exomes

Feb 22, 2017

We are pleased to announce our next webcast, Calling Large LOH and CNV Events with NGS Exomes. The live event is scheduled for Wednesday, March 8th at noon EST. Here are the specifics: Wednesday, March 8th 12:00 pm EST Next Generation Sequencing Exomes are a powerful assay used in both clinical…

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A Year of Achievements

Feb 21, 2017

In the last year, Golden Helix has received several honors. We attribute these great achievements to our customers and the community. As we strive to provide the best bioinformatics software available for both researchers and clinicians, the continued support, praise and referrals are monumental in our success. Pharma Tech Outlook…

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NGS-Based Clinical Testing eBook

Feb 16, 2017

This generation of scientists, clinicians and bioinformaticians have already elevated the standards for diagnosis, prediction and care, ultimately improving patient outcome for millions of people by leveraging genomic information. This trend is only going to continue. Next-gen sequencing has made its way into the clinic, and understanding the full scope…

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Adding RSIDs to your SVS marker mapped spreadsheet

Feb 14, 2017

In the new Genotype Imputation tool that is coming soon to SVS, allele encoding is an important part of matching data between the target and the reference panels. If the same platform provider is being used, then A/B encoding can be used. However, it’s better to use the Reference/Alternate allele…

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PhoRank in SVS: Gene Ranking for Your Research Genotypes

Feb 9, 2017

Since we released our Phenotype Gene Ranking algorithm in VarSeq, it has become a staple of the way people conduct their analysis. It allows for a combination of filtering with ranking to prioritize follow-up interpretations of analysis results. Our PhoRank algorithm will be available in our upcoming SVS release to…

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GWAS 3.0

Feb 7, 2017

Genome-wide association study (GWAS) technology has been a primary method for identifying the genes responsible for diseases and other traits for the past ten years. GWAS continues to be highly relevant as a scientific method. Over 2000 human GWAS reports now appear in scientific journals. In fact, we see its…

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Clinical Reporting Made Easy

Feb 2, 2017

Join our upcoming webcast – Clinical Reporting Made Easy Wednesday, February 15th 12:00 pm EST Clinical labs need to be able to process samples down to a short list of variants and publish a professional report. VSReports helps scientists and clinicians alike create timely, actionable reports that can improve clinical…

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Recent Customer Success

Jan 31, 2017

Just as we expected, 2017 has kicked off with a flurry of new publications by our customers. We even had a publication from a client using our VarSeq software! Congratulations to all, please take a look at some of the articles we have highlighted below: Reza Sailani of Stanford University and…

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NGS-Based Clinical Testing: Part VI

Jan 26, 2017

With a properly defined wet-lab and bioinformatics process, we are able to zero in on clinically relevant variants. How does a lab report on the outcome of their analysis? We find that most laboratories conduct their variant classification based on the guidelines formulated by the American College of Medical Genetics…

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Massive Variant Boost to ClinVar & PubMed Citation Fields

Jan 24, 2017

It may have been easy to miss in the drum-beat of monthly annotation updates we do here at Golden Helix, but there are a couple of things that are very special about the January update to the ClinVar database: We added new fields including HGVS names of variants and citations…

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