The Golden Helix team is headed off to Phoenix, AZ for the Association for Molecular Pathology Annual Meeting & Expo (AMP) 2022. We are enthusiastically awaiting a week of genetics discussions with new and familiar faces. If you are attending, please stop by our booth and say hello! We will be exhibiting at booth 1432. Golden Helix President & CEO,… Read more »
The month of VarSeq must be October. This month we saw incredible research and clinical application being utilized with the VarSeq suite. Whole exome sequencing and variant filtering and annotation, CNV calling for oncology research, and pathogenicity classification using the ACMG guidelines. VarSeq was able to be a front-runner this month, showing the full range of capabilities. Germline RB1 Mutation… Read more »
Our team is getting ready to head to Los Angeles, CA for the American Society of Human Genetics Annual Meeting (ASHG) 2022. We are looking forward to spending the week discussing genetics with new and familiar faces! If you are planning on attending, please stop by our booth and say hello! You will find the Golden Helix team in booth… Read more »
There are many reasons a user may wish to focus in on specific variants as part of variant annotation and filtration workflow. You may be looking for the occurrence of specific SNPs in a cohort or perhaps looking for variants known to be associated with specific forms of cancer. For both of these use cases, VarSeq provides a Match String… Read more »
Every month we compile customer publications that reference us, and every time I am excited to see the amazing work being done around the world. From pediatric heart conditions to rare diseases, or a Thai clinical study on dilated cardiomyopathy, it is always a pleasure to see the Golden Helix Software suite helping research and clinical genetics. Below are a… Read more »
Large genetic cohorts require substantial effort to analyze. Genetic researchers are increasingly turning to whole exome and whole genome sequencing analyses for their clinical diagnostics and research. However, with that approach comes the challenge of making sense of these massive datasets. This is especially challenging when looking for tools that can streamline variant analysis for large genetic cohorts and include… Read more »
The ability to analyze copy number variants (CNVs) is an important aspect of any clinical or research workflow. While calling CNVs can be a challenging engineering problem, we are thrilled by our capacity to detect, analyze, and catalog CNVs all in the same place with VarSeq-CNV. In this blog, we will dive into the particulars of detecting CNVs with gene… Read more »
There are a number of conferences coming up on our schedule in the next few weeks. It’s a great opportunity check out the latest developments at Golden Helix and see exciting technologies in action. These conferences are a wonderful opportunity to discuss new discoveries in genomics. We will be there with our clinical NGS analysis software, the VarSeq suite, to… Read more »
We would like to thank everyone who entered our 2022 Innovation Awards Competition. It is always a pleasure to read and learn about the various ways Golden Helix software is applied around the world as well as the amazing research that is being done. With that said, it is our pleasure to announce this year’s winners! First Place: Ammar Husami… Read more »
This past month has produced some very interesting and diverse publications, all of which are using the VarSeq suite of products for whole exome & whole genome sequencing strategies. This month had it all: investigations of an understudied population in pharmacogenomic testing, the first-ever find with implications for Maine coon cats, and a puzzling case with a unique family displaying… Read more »
Thank you to those who attended our webcast on the user perspective of our automated AMP guidelines! Furthermore, let me express our appreciation for those particularly engaged users who posed some very thoughtful questions. While we weren’t able to answer all of them live, I hope to shed some light on some pertinent details of somatic analysis here. Let’s start… Read more »
Large-scale next-generation sequencing studies are becoming increasingly popular clinical and research tools. One enduring challenge for interpretion of these large amounts of data has been predicting the functional impact of genetic variants. Access to efficient computational tools for predicting the functional impact of variants is crucial to prioritizing the most potentially relevant variants in a dataset in a time-efficient manner…. Read more »
Manually converting FASTQs to VCFs, importing these into VarSeq, and building projects from scratch is adequate when you have only a handful of cases per week. But as you start ramping up production, the key to your lab’s success quickly becomes how quickly and efficiently you can get to the reporting of your analysis. This blog will explain how you… Read more »
July brought about several customers having success with utilizing our VarSeq software. We saw publicized research regarding Axenfield-Reiger syndrome, Septo-Optic Dysplasia, and association of TGFBI variants. This range of customer usage displays the vast capabilities of VarSeq and the applications it can work with. Axenfeld-Rieger syndrome: more than meets the eye Background: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment… Read more »
Let’s say you are the director of a large lab, which is running tens or hundreds of standard NGS sample analyses per week. You have a number of employees with varying levels of analysis background, and you want to be sure everyone is running the analysis the same way. You are also concerned about updating catalogs that could create differences… Read more »
First, thank you to everyone who joined us for our recent webcast, Handling a Variety of CNV Caller Inputs with VarSeq. Also, we would like to thank those that Tweeted #CNVsupport @GoldenHelix or emailed us ([email protected]) to throw in their questions. This was a successful trial run, and we would like to continue engaging with our users through these outlets…. Read more »
Genomic data visualization is an extremely powerful means to help users comprehend massive amounts of sequencing data and is valuable for communicating genomic information and findings. Genome browser tools allow users to visualize aligned sequence data in BAM format, map the data to a reference assembly, view annotation tracks, genomic region tracks, export graphics for sharing, and much more. Genome… Read more »
Below is a list of highlighted peer-reviewed publications from this month. The Golden Helix team consistently enjoys seeing our software applications hard at work in the field, whether it is clinical whole-exome sequencing, targeted CNV identification, or genotype-phenotype correlations. Enjoy reading below how our suite of VarSeq, VSClinical, and VS-CNV continues to contribute to the progression of genetics research. Looking… Read more »
The Golden Helix team just returned from ESHG 2022 in Vienna, Austria. It was a great opportunity to speak with colleagues, customers, and partners face-to-face which many of us greatly missed. It has been three years since the last ESHG occurred in this format. Here are three takeaways from this year’s show: Strong bias to action: Some NGS initiatives that… Read more »
Our team is excited to be in Vienna, Austria for the European Society of Human Genetics Annual Meeting (ESHG) 2022. We are looking forward to spending the week discussing genetics with new and familiar faces! If you are planning on attending, please stop by our booth and say hello! You will find the Golden Helix team in booth X5-476. Our… Read more »
