Author Archives: Andreas Scherer

Andreas Scherer

About Andreas Scherer

Andreas Scherer, Ph.D has managed global software and services businesses working for publicly traded companies such as Netscape and AOL as well as privately held companies. As part of his academic work, he has developed algorithms to conduct DNA sequence analysis. In the last decade, he has focused on accelerating R&D processes of Fortune 500 pharmaceutical, biotech, and medical device companies. As a result of this work, he is intimately familiar with the domestic and international life sciences market. Dr. Scherer holds a PhD in Computer Science from the University of Hagen, Germany, and a Master of Computer Science from the University of Dortmund, Germany. He is author and co- author of over 20 international publications and has written books on project management, the Internet, and artificial intelligence. His latest book, “Be Fast Or Be Gone,” is a prizewinner in the 2012 Eric Hoffer Book Awards competition and has been named a finalist in the 2012 Next Generation Indie Book Awards. Follow Andreas on Twitter @andreasscherer or connect with him on LinkedIn.

  

Secondary Analysis 2.0 eBook

      Andreas Scherer    September 5, 2017    No Comments on Secondary Analysis 2.0 eBook

Next-Gen Sequencing promised to be the ultimate paradigm when it comes to genetic research and clinical testing since it contains the complete genetic information. When it comes to the current reality in testing labs, there are still a number of additional testing paradigms used in an analysis, specifically, copy number variations. Among these, labs still widely use Chromosomal Microarrays and… Read more »

Secondary Analysis 2.0 – Part V

Detection of CNVs

An Example of an Integrated Clinical Workflow for CNVs and SNVs In this blog series, I discuss the architecture of a state of the art secondary pipeline that is able to detect single nucleotide variations (SNVs) and copy number variations (CNVs) in one test leveraging next-gen sequencing. In Part I, we reviewed genetic variation in humans and looked at the key… Read more »

Secondary Analysis 2.0 – Part IV

Detection of CNVs

Examples of CNV Calling What do CNV calls actually look like? What are some of the key metrics to determine an event? Part IV of the Secondary Analysis 2.0 blog series will answer these questions by walking through some examples of how our CNV caller, VS-CNV, identifies CNVs. Golden Helix integrates multiple metrics to determine if a CNV event is… Read more »

Secondary Analysis 2.0 – Part III

Detection of CNVs

Detection of CNVs in NGS Data Our Secondary Analysis 2.0 blog series continues with Part III: Detection of CNVs in NGS Data. We will give you an overview of some design principles of a CNV analytics framework for next-gen sequencing data. There are a number of different approaches to CNV detection. The published algorithms share common strategies to solve the… Read more »

Secondary Analysis 2.0 – Part II

Detection of CNVs

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. In Part I, we reviewed genetic variation in humans in general and looked at the key components of a systems architecture supporting this… Read more »

Secondary Analysis 2.0 – Part I

Detection of CNVs

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 enables scientists to better understand ancient human migrations. It gives… Read more »

Final thoughts on ESHG 2017

ESHG

We are back from another exciting trip to ESHG, hosted in Copenhagen, Denmark last week. We were delighted by the number of researchers and clinicians we were able to connect with. Needless to say,  the weather was outstanding in Copenhagen, which made our stay even more pleasant! Even though this was a European event, it was great to be able to speak with… Read more »

Golden Helix announces Partnership with Sentieon

Partnership with Sentieon

Today, we are happy to announce a multi-year partnership with Sentieon, a company that develops bioinformatics secondary analysis tools to process genomic data. This partnership will integrate Sentieon’s secondary analysis tools with Golden Helix software to provide users with a comprehensive solution for genomic data analysis. Sentieon’s suite of secondary analysis tools made the significant improvement in runtime over BWA-MEM, GATK,… Read more »

Final thoughts on ACMG 2017

      Andreas Scherer    March 28, 2017    No Comments on Final thoughts on ACMG 2017
ACMG 2017

Last week was fast and furious for those of us who made it to Phoenix attending ACMG 2017. The event was exceptionally well attended, with great talks and sessions. Here are some of the highlights that are worth mentioning from our perspective. Numerous talks referenced how important the updated Exac/gnomAD database is for clinical NGS analysis. The new dataset includes… Read more »

PreventionGenetics adopts Golden Helix CNV analysis

Partnership with Sentieon

Today, I am happy to announce the introduction of VS-CNV for Gene Panels and Exomes. We have developed this capability in partnership with PreventionGenetics. PreventionGenetics will use VarSeq CNV for analysis of gene panels, and in the future for exome sequencing. The software gives PreventionGenetics the opportunity to conduct a comprehensive CNV analysis on NGS data, in many cases eliminating the need… Read more »

Golden Helix Among Top Biotech Solutions

top biotech solutions

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  We are very thankful for the hundreds of organizations and… Read more »

4th Annual Abstract Challenge Winners

4th Annual Abstract Challenge

This year’s annual Abstract Challenge was once again a successful event. We want to thank all that participated. This year we had nearly 50 submissions and our decision was a difficult one. Here are the selected winners. This year, we had dual first place winners; Reza Sailani and Jingga Inlora of the Michael Snyder lab in the Department of Genetics at… Read more »

A Year of Achievements

      Andreas Scherer    February 21, 2017    No Comments on A Year of Achievements
published

In the last year, Golden Helix has received several honors. We attribute these great achievements to our customers and the community. As we strive to provide the best analytics software available for both researchers and clinicians, the continued support, praise and referrals are monumental in our success. Pharma Tech Outlook selected Golden Helix as one of the top 10 Pharma… Read more »

NGS-Based Clinical Testing eBook

This generation of scientists, clinicians and bioinformaticians have already elevated the standards for diagnosis, prediction and care, ultimately improving patient outcome for millions of people by leveraging genomic information. This trend is only going to continue. Next-gen sequencing has made its way into the clinic. Golden Helix supports the adoption of Precision Medicine by building products, such as our VarSeq… Read more »

GWAS 3.0

      Andreas Scherer    February 7, 2017    No Comments on GWAS 3.0
GWAS eBook

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 adoption increasing beyond the human-centric research into the world of… Read more »

NGS-Based Clinical Testing: Part VI

reporting incidental genetic findings

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 (ACMG) for inherited diseases. The ACMG guidelines for variant classification… Read more »

What to expect from Golden Helix in 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 and Animal community. We have a terrific plan in place… Read more »

Call for abstracts!

      Andreas Scherer    December 13, 2016    No Comments on Call for abstracts!
Call for Abstracts

It is time to kick off our fourth annual abstract challenge! Our mission at Golden Helix is to enable Precision Medicine. We accomplish this by creating powerful software that enables both researchers and clinicians to complete complex analysis. This competition allows us to enable discovery by awarding software to those making an impact in the field. The competition has been… Read more »

Final thoughts on ASHG 2016

      Andreas Scherer    October 25, 2016    No Comments on Final thoughts on ASHG 2016
Customer Success

ASHG 2016 is in our rear mirror. Again, it was bigger and better than the previous year. The conference hosted over 9,000 visitors from 66 countries. This gave the event a level of vibrancy that was evenly matched by the wonderful ambiance of the city of Vancouver. Nestled in between the two conference centers was a little pier offering spectacular… Read more »

Genomic eBooks Series reached 10k Downloads!

10 k Downloads

Today we reached an important milestone. We have registered over 10,000 confirmed eBook downloads. Of course we are thrilled! Over the years, we aimed to contribute relevant content to the community. For some time, we have blogged and conducted webinars on the latest technology, methods and best practices. Our eBooks were the latest addition to this mix. We received a… Read more »