Golden Helix Blog

New & Improved ClinVar Annotations

Mar 13, 2018

ClinVar is the NCBI variant database that focuses on the categorizing of variant alleles and their interpretation from a clinical standpoint. This has made it a great resource, especially for those seeking variant allele disease correlations and pathogenicity. And this all worked fairly well, but it was changed… Previously, the…

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Small-Lab VarSeq PowerPack

Mar 6, 2018

Ready to take your analysis to the next level? Our Small-Lab VarSeq PowerPack enables users to move their analysis from FASTQ to clinical reporting through one streamlined pipeline. Here’s what’s included: VarSeq VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and…

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Exclusive Look at Sentieon TNscope Q&A

Mar 1, 2018

Sentieon TNscope is a platform dedicated to the identification of tumor-normal somatic variants including single nucleotide variation (SNV), indel, as well as structure variations (SVs). In our recent webcast, Dr. Donald Freed, Bioinformatics Scientist at Sentieon, gave viewers an exclusive overview of the platform. The webcast generated a lot of…

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Using NGS to detect CNVs in familial hypercholesterolemia Q&A

Feb 19, 2018

First-place Abstract Competition Winner, Michael Iacocca, shared his research with the Golden Helix Community during our February webcast ‘Using NGS to detect CNVs in familial hypercholesterolemia‘. In this webcast, he gave a great explanation on how our CNV caller aided his team in their research. If you were unable to…

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How we’re curating OMIM: It’s not as easy as you think

Feb 13, 2018

Relating human phenotypes to genotypes is the name of the game with OMIM, and as their website says, “is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.” The Online Mendelian Inheritance in Man (or…

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1st Place Abstract Competition Winner

Feb 6, 2018

Our abstract competition is one of my favorite events because of the learning opportunity it provides our team. Each applicant’s submission tells us a unique story about how our software is helping users conduct their research. This year’s competition didn’t disappoint bringing a new round of fascinating studies to our…

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Cited in 1,200+ Publications

Feb 1, 2018

Golden Helix is fueled by our customers’ success; every product, every feature, every line of code is created to aid our users and their quest for discovery in the scientific community. As of today, our products have assisted users with 1,200+ publications. A process we know to be long, difficult…

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10 Most Innovative Pharma and Life Sciences Solutions Providers 2018

Jan 29, 2018

Awarded one of the top biotech companies Insight Success recently published its annual Pharma and Life Special Edition announcing the 10 most innovative solution providers of 2018. We are incredibly honored to have received this award and being recognized amongst the top biotech companies! You can access the publication featuring my…

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Using GRCh38 for Clinical Interpretation: Now Possible with Our Custom LiftOver Tracks

Jan 23, 2018

There are many good reasons why the pursuit of the highest quality genomic interpretation would lead you to the latest human reference. It is more complete and fixes incorrect or partially missing genes that have known implications for human disease. While most major projects cataloging human populations have plans to…

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Revisiting the Five Splice Site Algorithms used in Clinical Genetics

Jan 16, 2018

Interpretation of variants in accordance with the ACMG guidelines requires that variants near canonical splice boundaries be evaluated for their potential to disrupt gene splicing [1]. The five most common tools for splice site detection are NNSplice, MaxEntScan, GeneSplicer, HumanSplicingFinder, and SpliceSiteFinder-like. Because these algorithms have been made easily accessible…

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Top Webcasts of 2017

Jan 9, 2018

2017 was an incredibly prosperous year for Golden Helix; we released a handful of new features, announced new partnerships and completed our end-to-end architecture for clinical testing labs. Our webcast series has become a very popular way for our community to stay up-to-date with our new capabilities and best practices…

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Robarts Research Institute & VS-CNV

Jan 5, 2018

One of our main focuses in 2017 was VS-CNV which allows clinicians to directly call CNVs in target regions quicker, easier and more affordably than CMA or MLPA testing. Our clients at Robarts Research Institute shared their recent publication with me which confirms that our time and dedication to our…

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Bring the Value of VS-CNV to Genomic Research in SVS

Jan 4, 2018

The Golden Helix SNP & Variation Suite (SVS) platform is a powerful and versatile set of tools and algorithms for performing genomic research. That research spans from data originating on genotype micro-arrays to next-generation sequencing. While the majority of SVS users start with genotype data on their samples, any genomic…

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What to expect from Golden Helix in 2018

Jan 2, 2018

First of all, I wish you a prosperous 2018 along with happiness and health for you and your loved ones. This next year comes with lots of anticipation. We at Golden Helix are looking forward to another year of growth and innovation. Over the last few years, we were able to…

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The Clinical Utility of the 1000 Genomes Variant Frequencies

Dec 19, 2017

We have a lot to thank the 1000 Genomes project for in the genomics community. By the collaborate efforts of many researchers and organizations, the project produced not only the first catalog of rare human variation but in the process standardized many things we take for granted, such as the…

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Genomic Prediction Methods in SVS Q&A

Dec 14, 2017

Yesterday’s webcast, Genomic Prediction Methods in SVS, gave attendees a chance to see how the principles of genomic prediction are applied within SVS, predicting phenotypes for both plant and animal species. You can find a recording of the webcast on our site here should you be interested in checking it…

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Top biotech solution providers of 2017

Dec 12, 2017

It is a great honor for us to be recognized as one of the “Top 25 Biotechnology Solution Providers of 2017” by CIO Applications. You can find my interview with the editor here. We are incredibly thankful for the hundreds of organizations and thousands of users globally trusting our brand!…

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New and Updated Annotations

Dec 7, 2017

Golden Helix is excited to announce a new round of novel and updated annotations; including a frequency track, a region track, and a gene track. All three of these tracks were created with the use of VarSeq and its Convert Wizard functionality. First, the expansive 1000 genomes track (1kG) has…

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VSWarehouse Updates with the Power of VarSeq 1.4.7

Nov 30, 2017

With the recent release of VarSeq 1.4.7, we have expanded the concepts of our popular assessment catalog to include CNV and other region-based records and not just variants. To match these capabilities, we have made a major update to VSWarehouse that supports these new record types in the centrally hosted…

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Annotation Education Series: CNV Annotations

Nov 9, 2017

With the recent upgrade to VarSeq 1.4.7, users gain access to some new great features. Among the additions are new CNV annotations (Figure 1). In this final chapter of the annotation blog series, we are going to provide descriptions of the new CNV annotations and how they can be used.…

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