Upcoming Webcast on CNV Calling of Target Regions

CNV calling

Copy Number Variations (CNVs) play an important role in human health and disease, and the detection of CNVs in clinical samples has the potential to improve clinical diagnoses and inform treatment decisions. Yet until now, if you wanted to have CNVs on your targeted gene samples, you would need an alternative assay such as Chromosomal Microarrays (CMAs). In this webcast,… Read more »

Big Data Webcast Q&A

      Cheryl Rogers    September 22, 2016    No Comments on Big Data Webcast Q&A
Big Data Q&A

Gabe Rudy’s webcast yesterday, Big Data at Golden Helix: Scaling to Meet the Demand of Clinical and Research Genomics, was a huge success with well over 300 registered. In today’s blog post, I wanted to recap the Q&A session with Gabe. If you missed the webcast, check it out! Question:  What is the end goal for an application like Warehouse? Answer:  The… Read more »

Genomic eBooks Series reached 10k Downloads!

10 k Downloads

Today we reached an important milestone. We have registered over 10,000 confirmed eBook downloads. Of course we are thrilled! Over the years, we aimed to contribute relevant content to the community. For some time, we have blogged and conducted webinars on the latest technology, methods and best practices. Our eBooks were the latest addition to this mix. We received a… Read more »

NGS-Based Clinical Testing (Part V)

Quality Managment

Quality Management in Clinical Testing Any validated bioinformatics pipeline must be continuously monitored. Quality management in clinical testing labs ensures that any divergence from predefined quality metrics during the analysis of clinical samples is investigated. For example: There is an insufficient number of sequence reads that passed the predefined base quality score threshold The number of variants identified in a… Read more »

Let There Be Genomes: Big Data Genomics Webcast Teaser

Big Data Genomics

Big data is here, but fear not, you don’t need a Hadoop cluster to analyze your genomes or your cohorts of tens of thousands of samples! It turns out, for the kind of algorithms employed in variant annotation and filtering, running optimized local programs is often faster anyway. As we support our diverse customer base, we have definitely seen the… Read more »