One of the main challenges anyone working with NGS data faces is the sheer volume of information. Finding an efficient workflow that will quickly filter through the noise and get to the clinically relevant variants is invaluable for working in this space. This is where Golden Helix—a company delivering industry-leading bioinformatics solutions—is standing apart.

Golden Helix has created the tools necessary for fast and accurate variant filtering and annotation. In addition to this, GHI has also developed automation tools and built-in workflows for very complex guidelines. For example, the ACMG (American College of Medical Genetics and Genomics) uses weighted evidence to classify variants. This classification system is complicated and can be very challenging for new users to understand. “Golden Helix has a workflow that guides users through a decision tree, which recommends decisions while educating the user on the guidelines,” explains Dr. Andreas Scherer, CEO. The user can then make the final determination (pathogenic, non-pathogenic, variant of unknown significance) while concurrently educating themselves on the clinical relevance of the variants and navigating the flow of logic.

Golden Helix is a global bioinformatics and analytics software company that enables clinical practice and research to analyze large genomic data sets. The software stack boasts a highly scalable and flexible solution for analyzing sequencing data from the FASTQ file to the clinical report. VarSeq is the hub of the stack, and this is where variant filtering and annotation occur. In VarSeq, users can also detect copy number variations from single exome to large aneuploidy events. From here, users have access to automated workflows based on the ACMG and AMP guidelines through VSClinical. These variant interpretations are added into a customizable report in VSClinical. “All features can be integrated into a standardized workflow, and additional automation is available with our command-line tool, VSPipeline. This module takes the projects you have created in VarSeq and automates them, saving the user so much time and money,” adds Scherer. VSWarehouse is Golden Helix’s genomic repository tool, and houses all the variants, interpretations, annotations, and reports, and is highly queryable.

Since its inception in 1998, Golden Helix has been focused exclusively on the research and clinical spaces. As the landscape has progressed and more doctors and clinicians embrace NGS technology, so too has their focus changed. Golden Helix has some of the best capabilities in the market today for clinical diagnoses utilizing NGS data. The company provides solutions for various clients ranging from small labs, large regional multi-site labs to country-wide implementation. An instance that portrays Golden Helix’s value proposition is when the company assisted Hannover Medical School. Dr. Bernd Auber and his teamwork with germline and somatic data, in addition to CNV detection. NGS data analysis is a complicated process that was time-consuming for Dr. Auber’s team. They already surpassed their ability to manually analyze and knew they needed to find a better way. The team narrowed down their search for analytical software to tools that could support both germline and somatic data, and this is where Golden Helix’s solutions stood out. Dr. Auber hopes to broaden the scope of MHH’s diagnostics for both the research and clinical spaces and looks forward to the capabilities provided by Golden Helix that will allow him to re-visit previously analyzed variants in an easy and automated fashion.

Recently, the company was listed by 2019 & 2020 Inc 5000 List of Fastest-Growing Private Companies. Under the leadership of Dr. Scherer, Golden Helix will continue to expand its global customer base and continue to innovate. In the last decade, Scherer has focused on accelerating the 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. “With these capabilities and focus, Golden Helix will ensure to improve the efficiency of our customers, reduce overall healthcare costs, and do our part to improve patient outcomes,” concludes Scherer.