Search results for “CNV”

Customer Publications June 2022

Jun 28, 2022

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…

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Headed to Vienna, Austria for ESHG 2022

Jun 9, 2022

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…

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Questions from Webcast: Evaluating Cloud vs On-Premises for NGS Clinical Workflows

May 23, 2022

In the era where cloud-based solutions are the default for the modern office, it may not be obvious why many laboratories and testing centers choose to host their data and analysis pipelines on-premises or on self-managed cloud services. In the recent webcast Evaluating Cloud vs On-Premises for NGS Clinical Workflows,…

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Sentieon Updates: Now Supporting Long-Read Alignment and Calling

May 9, 2022

Here at Golden Helix, we’ve sought to develop top-quality bioinformatic software to handle not only high-throughput clinical next-gen sequencing pipelines but also cater to research groups exploring their cohorts. Our tools fit in this NGS pipeline by importing the VCF and BAM files for downstream filtration, annotation, and classification/interpretation as…

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Mining VarSeq Curated Databases for Literature – Raw Data Search in Variant Table or GenomeBrowse

Apr 21, 2022

An under-utilized use of VarSeq is the ability of mining raw variant data in GenomeBrowse for relevant literature. By bringing in various public and private annotation sources, GenomeBrowse allows the user to interface with raw variant data in a compressed and manageable view. This blog will show you how to…

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See you all at ACMG 2022!

Mar 16, 2022

Everyone at Golden Helix is excited to be traveling once again to an eventful week in Nashville, Tennessee, for ACMG 2022! If you are attending the conference, we hope you will stop by our booth and say hello to the team: Andreas Scherer, Ph.D., Darby Kammeraad, Jennifer Dankoff, and myself,…

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Review of VarSeq Export Options

Mar 10, 2022

Although best known for its auto-generation of custom reports, VarSeq comes with a slew of options for exporting your data. In this blog, we will review some of the lesser-known methods for exporting your data into usable formats. These four export options can all be found under the Export tab…

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Customer Publications February 2022

Feb 28, 2022

VarSeq software again takes center stage in our recent publications for February. It is our great honor to be a part of the groundbreaking discoveries highlighted below as well as the many others too numerous to include in this blog post! We are happy to contribute to scientific findings from…

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What to Expect in 2022

Jan 3, 2022

Happy New Year to all! I hope that you were able to enjoy quality time over the holidays with family and friends. It is time to begin discussing our plans for the new year again, but I would first like to review a few highlights from 2021 that laid the…

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SVS 8.9.1 Release

Dec 28, 2021

We would like to announce that a new version of SVS has been released! The headlining feature of the SVS 8.9.1 release was new functionality for Large Data Principle Component Analysis. A detailed description of this new feature can be explored in this recent blog post: Finding a Few Principal…

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Using ACMG Secondary Findings v3.0 List in VarSeq and VSClinical

Dec 21, 2021

As the number of genes on a gene panel increases, there is the possibility of picking up variants of medical significance that are not related to the primary indication for the test. Especially with large gene panels, exomes, and genomes, it is medically and ethically important to report variants that…

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VarSeq’s New and Improved Manual

Dec 16, 2021

I’m sure everyone’s favorite winter activity is getting cozy next to a fire, with a nice cup of tea, and reading the VarSeq instruction manual, right? Of course all VarSeq users have read the manual, but if you have not had the chance to review this captivating read, let me…

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VarSeq 2.2.4 Release

Nov 30, 2021

We are very excited to announce that just last week, we released VarSeq 2.2.4! In the past few months, we have been building the excitement for the 2.2.4 version of VarSeq with several webcasts in which we describe some of the headlining features in detail such as the new support…

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Top FAS Tricks You Wish You Knew When Getting Started with VSClinical

Nov 18, 2021

As a newer member of the Golden Helix FAS Team I, like many of our customers, went through a phase of learning the ins, outs, and shortcuts of clicking around the program. In an effort to expedite new users coming up to speed, or to teach some tricks to experienced…

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Customized Reports in VSClinical with New Output Types

Sep 23, 2021

Golden Helix VSClinical provides a guided workflow interface for following the ACMG and AMP guidelines to evaluate variants and CNVs for NGS tests. The output of this work is most often a lab-specific clinical report. Since it was introduced, we have provided a powerful Word-based templating system to allow labs…

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Case Study with LifeCell International: Transforming Precision Medicine in India

Sep 13, 2021

Established in 2004 and headquartered in Chennai, India, with regional centers across the country, LifeCell runs India’s largest stem cell bank and has also diversified into diagnostics and tissue therapeutics. They employ roughly 2,000 people, providing genetic services to customers in the mother and baby space. Phani Nagaraja Setty is…

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ESHG 2021 Corporate Satellite Talks

Aug 26, 2021

Join the Golden Helix team at this year’s ESHG 2021 Virtual Conference! We will be presenting two different talks on our different product solutions and fielding any questions you might have. VSClinical: a comprehensive NGS clinical solution The first talk, VSClinical: a comprehensive NGS clinical solution, will be on Sun,…

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Manage gene lists across projects with VarSeq and VSClinical

Aug 18, 2021

Clinical labs often maintain gene panels, which are lists of genes with evidence of disease association. These panels are used to prioritize variants and limit interpretations to a predefined set of test-specific genes. In general, gene panels should be stored independently of any specific project or interpretation, as it is…

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How a neonate’s rash can be one of your most important pieces of data: making phenotypic info statistically tractable for clinical diagnostics

Aug 5, 2021

I remember visiting a patient in the NICU amongst the incubators, some glowing blue like tiny tanning beds to treat jaundice, all containing tiny humans – many smaller than a loaf of bread. Infants get admitted into the neonatal intensive care unit or NICU for many reasons ranging from elevated…

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Customer Publications in July 2021

Jul 29, 2021

In the July 2021 Customer Publication blog, I will highlight four studies that provided further insights into conditions that are typically identified in early childhood. As you will see as you read the summaries of each publication, both Golden Helix software platforms (VarSeq and SNP & Variation Suite or SVS…

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