Golden Helix Blog

PhoRank in SVS: Gene Ranking for Your Research Genotypes

Feb 9, 2017

Since we released our Phenotype Gene Ranking algorithm in VarSeq, it has become a staple of the way people conduct their analysis. It allows for a combination of filtering with ranking to prioritize follow-up interpretations of analysis results. Our PhoRank algorithm will be available in our upcoming SVS release to…

Read more →

GWAS 3.0

Feb 7, 2017

Genome-wide association study (GWAS) technology has been a primary method for identifying the genes responsible for diseases and other traits for the past ten years. GWAS continues to be highly relevant as a scientific method. Over 2000 human GWAS reports now appear in scientific journals. In fact, we see its…

Read more →

Clinical Reporting Made Easy

Feb 2, 2017

Join our upcoming webcast – Clinical Reporting Made Easy Wednesday, February 15th 12:00 pm EST Clinical labs need to be able to process samples down to a short list of variants and publish a professional report. VSReports helps scientists and clinicians alike create timely, actionable reports that can improve clinical…

Read more →

Recent Customer Success

Jan 31, 2017

Just as we expected, 2017 has kicked off with a flurry of new publications by our customers. We even had a publication from a client using our VarSeq software! Congratulations to all, please take a look at some of the articles we have highlighted below: Reza Sailani of Stanford University and…

Read more →

NGS-Based Clinical Testing: Part VI

Jan 26, 2017

With a properly defined wet-lab and bioinformatics process, we are able to zero in on clinically relevant variants. How does a lab report on the outcome of their analysis? We find that most laboratories conduct their variant classification based on the guidelines formulated by the American College of Medical Genetics…

Read more →

Massive Variant Boost to ClinVar & PubMed Citation Fields

Jan 24, 2017

It may have been easy to miss in the drum-beat of monthly annotation updates we do here at Golden Helix, but there are a couple of things that are very special about the January update to the ClinVar database: We added new fields including HGVS names of variants and citations…

Read more →

Fighting Childhood Leukemia at St. Justine

Jan 19, 2017

Acute lymphoblastic leukemia (ALL) is the most frequently diagnosed cancer in children and one of the leading causes of death due to disease in children. Dr. Daniel Sinnett, along with Pascal St-Onge and their colleagues at Sainte-Justine University Health center have been investigating the molecular determinants of the disease to…

Read more →

What to expect from Golden Helix in 2017

Jan 17, 2017

The year 2017 is starting fast and furious for us here at Golden Helix. We just announced a new imputation capability for our SVS product. At the same time, members of our team are on the way to PAG in San Diego to network with our clients in the Plant…

Read more →

Utilizing VSReports in Your Clinical Workflow

Jan 12, 2017

Clinical labs need to be able to process samples down to a short list of variants and publish a professional report. VSReports helps scientists and clinicians alike create timely, actionable reports that can improve clinical decision making and streamline patient care by seamlessly incorporating the results of tertiary analysis into…

Read more →

PAG XXV – Heading to sunny San Diego!

Jan 10, 2017

This Saturday, Plant & Animal Genome (PAG) XXV will kick off in sunny San Diego! Here in Montana, we have had a brutally cold winter thus far. I, like many of you, am looking forward to San Diego’s sunny, warm temperatures! Since last year’s PAG, SVS has had a number of…

Read more →

Golden Helix Among 50 Fastest-Growing Tech Companies

Jan 3, 2017

Golden Helix closed out 2016 with a great honor; in December, The Silicon Review Magazine released a special edition naming Golden Helix as one of the fastest-growing technology companies for 2016. You can read the interview with our CEO, Andreas Scherer, Ph.D, here: Delivering industry-leading analytic software and services. We continue to…

Read more →

WEBCAST: BEAGLE Imputation in SVS for SNP Data

Dec 27, 2016

Our webcast series for 2017 is starting off by giving the Golden Helix community their first look at our addition of genotype imputation into SVS! On Wednesday, January 11th, Gabe Rudy will discuss how users can now run their genotype phasing and imputation on human and animal data as part of their SVS analytics…

Read more →

Latest Customer Publications!

Dec 20, 2016

It sure is feeling like Christmas time in Montana with the piles of fluffy snow and negative temperatures! We are wrapping up the month with a few more publications from our clients, and we couldn’t be happier with how many articles were published in 2016! Congratulations to everyone who was able…

Read more →

Using Assessment Catalogs in your VarSeq workflow

Dec 15, 2016

Variant interpretation is an integral part of any workflow that results in some decisions being made about the validity and suspected functional impact of a variant in a given sample and their presenting phenotypes. The VarSeq Assessment Catalog functionality is designed to assist the VarSeq user in streamlining this process.…

Read more →

ExAC CNVs: The First Large Scale Public Exome CNV Variant Set

Dec 8, 2016

ExAC CNVs were released publicly with a recent publication, providing the full set of rare CNVs called on ~60K human exomes. While there are many public CNV databases out there, this is the first one that was derived from exome data, and thus includes both extremely rare and very small CNV…

Read more →

Case Study: Children’s Hospital Los Angeles

Dec 6, 2016

Dr. Laura Li and her colleagues at the Children’s Hospital Los Angeles (CHLA) are working to determine the underlying genetic causes of Optic Nerve Hypoplasia (ONH), which is still unclear. ONH is the absence or under-development of the optic nerve and is currently the leading ocular cause of vision impairments…

Read more →

WEBCAST: CNV Analysis with VarSeq

Nov 22, 2016

December’s webcast will provide the Golden Helix community with a more in-depth look at CNV analysis in VarSeq. On December 7th, Dr. Nathan Fortier will discuss the challenges and metrics surrounding CNV detection and then demonstrate VarSeq’s new capability from VCF to clinical report.  Wednesday, December 7th @ 12:00 PM, EST Numerous…

Read more →

Exporting Data From VarSeq to Excel

Nov 17, 2016

True to its nature, VarSeq offers multiple data export options. You can export result tables from VarSeq to Text, VCF, a VarSeq annotation file and most importantly an XLSX (Excel) File. VarSeq’s Excel export options provide a lot of flexibility in the information that is exported and preserve the formatting of…

Read more →

Annotating Cancer Mutations with CIViC

Nov 15, 2016

While clinical assessments of germline mutations have been collected in ClinVar under the stewardship of the NCBI and the collaborate effort of many testing labs, the same type of resource has been missing for mutations that could informal clinical care in Cancer. Or at least, that is what I thought until…

Read more →

Genotype Imputation and Phasing now in SNP & Variation Suite

Nov 8, 2016

One of the tools at the top of the toolbox for researchers working with microarray data is genotype imputation. Genotype imputation is the process of inferring the genotype of one or more markers based on the correlation pattern (aka linkage disequilibrium or LD) of the surrounding markers for which genotypes are known. We…

Read more →