Tag Archives: Golden Helix

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 »

Final thoughts on ASHG 2016

      Andreas Scherer    October 25, 2016    No Comments on Final thoughts on ASHG 2016
Customer Success

ASHG 2016 is in our rear mirror. Again, it was bigger and better than the previous year. The conference hosted over 9,000 visitors from 66 countries. This gave the event a level of vibrancy that was evenly matched by the wonderful ambiance of the city of Vancouver. Nestled in between the two conference centers was a little pier offering spectacular… 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 »

NGS-based Clinical Testing (Part IV)

clinical testing

After the Wet Lab process has been completed, the bioinformatics analysis of the sequencing data work begins. The next three blogs will focus on three aspects of this process. The building blocks of a bioinformatics pipeline, documentation and validation (today’s topic) Quality Management (Part V) Clinical Reporting (Part VI) The Building Blocks of an NGS Pipeline The bioinformatics process to analyze… Read more »