About Golden Helix

Secondary Analysis 2.0 – Part II

Aug 1, 2017

In this blog series, I will discuss the architecture of a state of the art secondary pipeline that is able to detect single nucleotide variations (SNV) and copy number variations (CNV) in one test leveraging next-gen sequencing. Modern NGS analysis pipelines integrate these steps to efficiently process high-throughput sequencing data.…

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Secondary Analysis 2.0 – Part I

Jul 18, 2017

Human genetic variation makes us unique. On average, humans are to 99.9% similar to each other. Understanding in detail what the nature of the difference in our genetic make-up is all about allows us to assess health risks, and eventually enables Precision Medicine as we determine treatment choices. Furthermore, it…

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Calling Cytogenetic CNVs from Shallow Whole Genomes

Jun 21, 2017

Low read depth? Great! We are excited to introduce our new CNV calling algorithm for low and ultra-low read depth Whole Genome Sequencing (WGS) data. This algorithm is designed to call large cytogenetic events with high confidence from low read depth whole genome data, with as few as one million…

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Golden Helix Among Top Biotech Solutions

Feb 28, 2017

CIO Review recently published its annual Biotech Technology Special Edition announcing the 20 most promising biotech technology solution providers. It is a great honor that Golden Helix has been named among the top 20 for the second year in a row! Please find my interview with the editor here: Spearheading Innovation in the Biotech Industry …

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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…

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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…

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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…

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Advances in Medical Genetics Seminar and Workshop

May 10, 2016

Last week, I attended the Advances in Medical Genetics conference in Riyadh, Saudi Arabia. I was asked to present on “Big Data in DNA Analytics”. The event was hosted by Prof. Dr. Majid Alfadhel of the King Saud Bin Abdulaziz University for Health Sciences in collaboration with the Postgraduate Training Center. The event…

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Cancer Workflows in VarSeq

Feb 19, 2016

Wednesday, March 2nd 12:00 pm EST Clinical labs must have the ability to go from a collection of samples and associated variants to a professional report documenting a short list of clinically relevant variants. Cancer Gene Panels are a common clinical application for genetic tests. In this webcast we will…

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Clinical Reporting comes to VarSeq

Sep 17, 2015

The next release of VarSeq will ship a new product that is highly relevant to our customers working in clinical genomics testing labs. Via VSReports, VarSeq now has the ability to generate clinical-grade reports through its clinical reporting and workflow automation capabilities. These reports are fully customizable, containing focused and…

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Precision Medicine e-Book

Sep 15, 2015

Precision Medicine e-Book “It’s far more important to know what person the disease has than what disease the person has.” – Hippocrates (460 BC – 370 BC) Almost 2,500 years ago, Hippocrates captured one of the key principles underlying precision medicine. In the 21st century we take the understanding of…

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Precision Medicine – Part VII – Regulatory Issues

May 21, 2015

Regulatory Issues Regulatory bodies such as the Federal Drug Administration (FDA) already have a full plate. In the US, FDA-regulated products account for 20 percent of each dollar spent by American consumers each year. More specifically, the work of the regulatory authorities include the following: Carefully considering benefits and risks when evaluating…

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Precision Medicine – Part VI – The Educational Challenge

May 14, 2015

The Educational Challenge Precision medicine will fundamentally change how health care is practiced. Of course, we have a long way to go. For most practitioners today, their knowledge of the human genome was established many years ago. However, new therapies and diagnostic methods are pouring in on a daily basis.…

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Precision Medicine – Part V – Bioinformatics Pipelines and Systems Infrastructure

May 7, 2015

Bioinformatics Pipelines and Systems Infrastructure The genetics industry is undergoing a fundamental shift from a clinical science focus to a bioinformatics focus. Genetic services require a greater level of data analytics sophistication than is required for other laboratory testing. Currently, data generated by new tests overwhelms current information technology systems…

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Precision Medicine – Part III – Tailoring Diagnostic and Therapeutic Strategies

Apr 23, 2015

Tailoring diagnostic and therapeutic strategies Many have called Sir William Osler (1849-1910) the “Father of Modern Medicine”. He was one of the four founding professors of Johns Hopkins Hospital where he was instrumental in creating the first residency program for the specialty training of physicians. He brought medical students from…

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Precision Medicine Part II – Reimbursement and Cost

Apr 14, 2015

Reimbursement and Cost – Precision Medicine Part II The promise of precision medicine is to leverage highly targeted therapies for the benefit of the patient. By understanding better what makes us unique and leveraging our genetic make up, we hope to improve the outcome for the individual. Now, this blog…

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Precision Medicine – Part I

Apr 7, 2015

Precision Medicine Initiative On January 30, 2015, the Precision Medicine Initiative was announced by President Obama. Many in our field, researchers and clinicians alike, recognize that such a program would bring additional funding into our space to design, develop and implement new diagnostic tests that are aiding physicians in their practice of precision medicine. Here…

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Final Thoughts on PAGXXIII

Jan 22, 2015

The Plant & Animal Genome XXIII Conference (PAG) was again a success. It’s the venue for leading genetic scientists and researchers involved in plant and animal research to meet with their peers. If anything the event continues to grow. The largest population of registrations tend to be from an Academic…

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Genetic Testing for Cancer

Jan 20, 2015

In 1914 the German cytologist Theodor Boveri coined the phrase “Cancer is a disease of the genome”. At this time his ideas were equally revolutionary as they were highly contested. Fast forward. More than hundred years later, Next-Generation Sequencing effectively permits a highly sensitive analysis of cancer cells. It can…

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Dr. Andreas Scherer to speak at ITI 2015

Jan 15, 2015

The Integrative Therapies Institute is soon hosting the annual, ITI 2015 conference January 23rd through the 25th in sunny San Diego and our own Dr. Andreas Scherer has been invited to speak. Some of the most prominent genomic and integrative medicine specialists will gather at ITI 2015 to share case…

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