Top Three Most Popular Case Studies

We absolutely love case studies because they allow us to check in on our customers work and see how they are using our software. Not only is this useful feedback for our development team, but it is also an excellent way to share user experiences with prospective clients. We wanted to share a few snippets from our most popular case studies in case you haven’t had a chance to check them out!

Benjamin Darbro, MD, PhD at the University of Iowa, uses VarSeq® software for Clinical Testing
The Shivanand R. Patil Cytogenetics and Molecular Lab at the University of Iowa has a long history of clinical testing, seeing 45 years of advancements. Today, the lab is mainly focused on oncology, pre and post-natal genetics testing and serves the University of Iowa Hospitals and Clinics as well as the University of Iowa Stead Family Children’s Hospital. In last year alone they have performed over 5,500 clinical tests.When the lab’s director, Dr. Benjamin Darbro purchased Illumina’s NextSeq 500, he did so with the vision of being able to offer phenotype-focused gene sequencing panels. Darbro knew this goal would require an informatics pipeline with the same level of sophistication the lab developed for their research side, but one that would fit within the framework required for clinical testing. The decision then was between developing their own testing pipeline or to choose a vendor solution. Continue reading…

Chaim Jalas is Finding Rare Mutations at the Center for Rare Jewish Genetic Disorders
The genetic research provided by Bonei Olam is conducted at the Center for Rare Jewish Genetic Disorders and is focused on identifying the genes that cause rare disorders and disabilities that are associated with ethnic Jewish populations. To do this, Chaim Jalas, the Director of Genetic Resources and Services for the center, is on the forefront of leveraging whole exome sequencing data to better educate and consult with couples regarding undiagnosed disorders. Jalas and his team recently adopted the VarSeq Clinical Suite in order to conduct trio analysis and other family based next-generation sequencing analysis. “The VarSeq software provides beautiful filtering and annotation for our samples”, said Jalas. “However, what really impressed us was the ability of VSWarehouse to help us to generate a population catalog specific to the Ashkenazi Jewish community.” Continue reading…

Rick Kittles, PhD Uses Golden Helix® Software to Identify Novel Genetic Variations for Complex Diseases
Dr. Rick Kittles, former Director of the Institute of Human Genetics at the University of Illinois at Chicago, investigates the genetics of complex diseases that disproportionately impact people of color. Well known for his research in this field, Kittles has been featured in the PBS series African American Lives, in two BBC Two films, and on 60 Minutes. His work in genetics will, no doubt, help contribute to improved treatment and prevention strategies specific to minority population groups. To accomplish this goal, he utilizes a variety of methods including gene panels, SNP markers, and DNA sequencing, all of which produce massive datasets and thus require a robust analytic tool to produce results. With SNP & Variation Suite (SVS), Kittles can quickly interpret his data with ease. “We just did a GWAS with 2 ½ million SNPs in minutes with SVS. It’s impressive,” said Kittles. Continue reading…

Hopefully, you find these case studies to be as interesting as we do! And, if you have any questions about our software solutions or are a customer interested in doing a case study with us, please contact us at info@goldenhelix.com!

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