New Genome Maps & Annotation Tracks
Check out some information on the upcoming release of new genome maps and annotation tracks for a few animal species.
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Our Two SNPs…
Golden Helix Blog
Genomic insights, product updates, and upcoming events
Fascinating customer publications
Are you curious how others are taking advantage of Golden Helix software to further their research and findings? Well, look no further, here's a few of our customer's publications for you to check out.
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CNV Setup & Quality Assessment: Part 2
With this two-part blog series, users should now be able to perform CNV analysis using their data, set up basic quality filter standards to isolate high-quality events and utilize annotations to hone in on publicly known events as well as in-house recorded CNVs from previous projects.
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Golden Helix’s Twentieth Year Anniversary
If we take a look back in time, a lot happened in September 1998. It is the month in which the first ever “Who wants to be a Millionaire?” show debuted on ITV in Britain. Larry Page and Sergey Brin incorporated Google in September, registering the Google.com domain on September…
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CNV Setup & Quality Assessment: Part 1
2017 was a busy year regarding the development of our CNV tools. Since the release of the CNV caller, we have produced quite a bit of content tailored to assist our users with getting started. Here are some links: Robarts Research Institute CNV analysis on patients with familial hypercholesterolemia CNV…
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VSClinical: The details you should know
The recent release of VSClinical gives users the ability to evaluate variants based on the 33 criteria according to the American College of Medical Genetic and Genomics (ACMG) guidelines. This feature leverages a variety of variant sequencing evidence including population data, functional data, and computational predictions while providing rich visualizations…
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Hope to see you at ESHG 2018
We’re looking forward to seeing everyone at ESHG 2018 in Milano, Italy. Both Gabe Rudy and I will be representing the Golden Helix Team and hope that you will stop by to say hello! We will be in booth #312 which I’ve highlighted in the photo below: As always, we…
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Functional Predictions & Conservation Scores in VSClinical
In our previous webcast, we discussed the splice site algorithms for clinical genomics within VSClinical. We took it a step further in yesterday’s webcast and looked at the functional predictions and conservation scores. We had a great turnout for this event with lots of great questions from the attendees. I’d…
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Top 10 Analytics Solution Providers – Pharma Tech Outlook
We are incredibly honored to be recognized as one of the Top 10 Analytics Solution Providers of 2018 by Pharma Tech Outlook. Golden Helix develops clinical genomics software that helps laboratories streamline variant analysis workflows while meeting regulatory requirements. “Through innovative products, Golden Helix has been simplifying the clinical workflows…
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VSClinical Webcast Q&A
This week we launched VSClincial with our first webcast to show our powerful new way to perform variant interpretation following the ACMG guidelines. Our audience asked a lot of great questions on the new product and I’d like to highlight a few here. Can VSClinical run on a laptop and/or a locked…
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New & Improved ClinVar Annotations
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
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
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
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
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
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
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
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
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
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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