Category Archives: Technology review

Clinical Variant Interpretation: Part III

VCF file format

Yesterday we launched VSClincial with our first webcast in what will be a series about this powerful new way to perform variant interpretation following the ACMG guidelines. In this post, I wanted to cover the motivation for VSClinical and how we curated and presented the 33 criteria from the ACMG Guidelines into an intuitive workflow with various bioinformatic evidence and… Read more »

Webcast on Big Data in Genomics

      Delaina Hawkins    September 8, 2016    No Comments on Webcast on Big Data in Genomics

Wednesday, September 21st @ 12:00 pm EDT Every day, the trove of genomic data is growing. Clinics are sequencing targeted genes at high read depths to report out genetic tests. Research groups are adding new exomes and genomes to their disease-specific cohorts. Agricultural breeders are genotyping their herds and flocks by the thousands of thousands. The conventional attitude to big… Read more »

Bridging Two Worlds: Lifting Over Your Variants to GRCh38

GRCh38

When the new human reference genome was released over two years ago, it was hailed as a significant step forward for next generation sequencing. Compared to GRCh37, the new GRCH38 reference assembly fixed gaps, repaired incorrect sequences and offered access to sections of the genome that had been previously unaccounted for. Despite these improvements, adoption of the new assembly has… Read more »

Scaling is in our DNA: Making Genomics Accessible

Scalable Data

Scaling is in our DNA: Making Genomics Accessible One of the things I absolutely love about the work we do at Golden Helix is keeping up with the changes in data analysis driven by the iterative and generational leaps in technology. But one thing has always been a constant since day one: we break preconceived notions of what scale of… Read more »

Q&A from the VSWarehouse Launch Webcast

VSWarehouse Updates

Yesterday, it was my pleasure to share in a live webcast our integrated solution for genetic data warehousing, VSWarehouse. If you missed the webcast live, feel free to check out the recording. Although we had a great set of questions at the end of our presentation, we didn’t have time to answer all of them, so here is a selection of… Read more »