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 have put together a series of quick, in-booth demos that… Read more »
We are incredibly honored to be recognized as one of the Top 10 Analytics Solution Providers of 2018 by Pharma Tech Outlook. “Through innovative products, Golden Helix has been simplifying the clinical workflows and genomic testing for numerous labs. For instance, Prevention Genetics, a clinical testing laboratory offering genetic and DNA banking services with the largest menu of gene sequencing… Read more »
In the last installment of this series, I covered the basics of variant interpretation and how it fits into the genomic testing process. Now we can cover in more detail how VSClinical works, what algorithms and annotation sources power the recommendations and how the ACMG criteria are organized into useful categories. VSClinical is built to make the process of evaluating… Read more »
Yesterday we launched VSClincial with our first webcast in what will be a series about this powerful new way to perform variant interpretation following the ACMG guidelines. In this post, I wanted to cover the motivation for VSClinical and how we curated and presented the 33 criteria from the ACMG Guidelines into an intuitive workflow with various bioinformatic evidence and… Read more »
We’re looking forward to seeing you all at the ACMG 2018. This year the Golden Helix Team will be represented by President & CEO, Andreas Scherer, Senior Product Engineer, Nathan Fortier, and myself, Marketing Manager, Delaina Hawkins. Make sure to stop by and say hello! You can find Golden Helix in booth #1306: We’ve put together a series of quick, in-booth demos… Read more »
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 analyze variants for gene panels, exomes, and whole genomes. VS-CNV… Read more »
I would like to congratulate our third and final winner of the 2017-18 Abstract Competition, Suxu Tan, a current PhD Student at Auburn University. Our first and second place winners, Michael Iacocca and Nicole Weaver, performed their research using VarSeq. Suxu, however, used SVS to conduct the research in his paper ‘GWAS analysis of QTL for resistance against Edwardsiella ictaluri in… Read more »
I hope you were able to join us for last week’s webcast where we invited first-place abstract competition winner Michael Iacocca to present on his submission “Using NGS to detect CNVs in familial hypercholesterolemia”. Today, I’d like to announce our second-place winner, Nicole Weaver, Clinical Geneticist at Cincinnati Children’s Hospital. Nicole adopted VarSeq into her research pipeline in 2015 and… Read more »
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 OMIM) was originally created by Dr. Victor A. McKusick in… Read more »
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 attention. However, with all these great abstracts came the difficult… Read more »
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 interview with the editor here: http://www.insightssuccess.com/golden-helix-helping-researchers-clinicians-understand-role-cnvs-human-health-disease/. I have outlined some… Read more »
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 in genetic analysis using our software. We had three webcast… Read more »
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 build a large following of clients in the clinical space…. Read more »
There’s nothing better than starting the New Year off with a great genetics conference in San Diego, CA… We’re looking forward to seeing you all at the Plant & Animal Genome Conference XXVI (PAG 2018)! This year the Golden Helix Team will be represented by Field Application Scientist, Darby Kammeraad, and myself, Content Marketing Manager, Delaina Hawkins. Make sure to… Read more »
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 VCF and BAM file formats. The variant frequencies of the… Read more »
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 been updated to include sub-population allele frequencies and heterozygous and… Read more »
Golden Helix strives to enable precision medicine by developing powerful software to support researchers with complex analysis. One of my favorite events of the year is our abstract competition. This competition allows us to help our community by recognizing innovative ways to conduct a genomic analysis. I am pleased to announce that our 2017-18 Abstract Competition has officially begun! We would… Read more »
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 and versioned Catalogs and Reports. Review of the VSWarehouse Genomic… Read more »
We’ve returned from another successful year at ASHG and had an incredible time. I find the conference to be a terrific opportunity to connect with our customers, partners, and friends in the industry. This year’s Presidential Symposium was a true delight featuring a discussion of global health and genomics between two absolute legends in the health and science world: Bill Gates,… Read more »
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… Read more »
