Category Archives: Big picture

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 »

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 »

Golden Helix Among 50 Fastest Growing TECH Companies

Silicon Review

Golden Helix Named Among the 50 Fastest Growing TECH Companies for 2016! Golden Helix closed out 2016 with a great honor! In December, The Silicon Review magazine released a special addition in which it named Golden Helix as one of the fastest growing technology companies for 2016. You can read the interview with our CEO, Andreas Scherer here: Delivering industry-leading analytic software… Read more »