Category Archives: Big picture

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’s End-to-End Architecture for Clinical Testing Labs

Precision Medicine and the usage of Next-Gen Sequencing to conduct genetic tests is rapidly growing. NGS based tests are increasingly used in therapeutic areas such as: Oncology Pediatrics and Newborn Screening Rare diseases There is also strong potential in areas such as diabetes and cardiac disorders, as well as in pharmacogenomics to determine safety, efficacy and cost of care. New… 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 »

Paying Attention to the Quality Fields in ExAC: A Case Study

In the past couple of weeks, the topic of the Filter and Quality fields in the popular ExAC population catalog has come up a number of times. It turns out that unlike the 1000 Genomes project, which decided to very heavily filter their variant list to only contain variants they consider high quality, ExAC chose to include more dubious variants… 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 »