Recently, I was interviewed by CIOReview on Golden Helix. I gave them an overview of our strategy as well as our entire solution stack. Please read the entire article here.
Cancer eBook – 2nd Edition
In 1914, the German cytologist Theodor Boveri coined the phrase “Cancer is a disease of the genome”. At this time, his ideas were as equally revolutionary as they were highly contested. Fast forward. More than a hundred years later, Next-Generation Sequencing effectively permits a highly sensitive analysis of cancer cells. It can help us to understand mutations associated with cancer development and progression. It also reveals other genomic rearrangements previously unknown to occur in the cancer genome. Translation of these findings for clinical purposes is an increasing part of standard care today.
I fully believe that next-generation sequencing will rapidly become a powerful tool for the personalized diagnosis and management of cancer. This eBook focuses on the parts of this process that are best understood: Cancer Gene Panels. This second edition will also show how a Tumor/Normal analysis can be conducted. This is typically more useful leveraging whole exome/genome data. We also added a case study to show how VarSeq is deployed in leading institutions such as the University of Iowa.
Read the full story on Our 2 SNPs… here.
GWAS eBook – 2nd Edition
I hope your 2016 is off to a good start! We at Golden Helix have been busy preparing and planning new and updated content for the community. First up is an updated GWAS ebook which includes a sample Meta-analysis example project.
In the 2nd edition, we start with an introduction to GWAS exploring its biology and origins as well as the practical use of GWAS. Next, we will look at performing a GWAS in the context of the SVS software, discussing quality control, including sample statistics, heterozygosity, LD pruning, population stratification and identity by descent. From there we move on to genotype association testing and we close with a walk through conducting a Meta-Analysis.
Read the full story on Our 2 SNPs… here.
What to expect from Golden Helix in 2016
We had a terrific year 2015. It was the year in which we got serious about the clinical testing market. We successfully continued on the path of attracting more referenceable clients such as University of Iowa, Baby Genes, Prevention Genetics and many more. We rounded out our VarSeq suite by adding more clinically relevant features and of course by adding VSPipeline and VSReports. 2015 was the year in which we put Golden Helix on the map as a true market leader in the clinical analytics space. With our products, patients are being diagnosed for cancer and for hereditary diseases. We are on the front line of Precision Medicine.
Why is it preferable for testing labs to do business with us? Read the full story on Our 2 SNPs… here.
Introducing Phenotype Gene Ranking in VarSeq
Personal genome sequencing is rapidly changing the landscape of clinical genetics. With this development also comes a new set of challenges. For example, every sequenced exome presents the clinical geneticist with thousands of variants. The job at hand is to find out which one might be responsible for the person’s illness.
In order to reduce the search space, clinicians use various methods to filter out noise. Case-cohort analysis or sequencing additional family members can also improve diagnostic accuracy by eliminating variants that are present in non-carriers that are also present in the cases. There have been a vast amount of algorithms and filters developed for those scenarios.
Read the full story on Our 2 SNPs… here.
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