Category Archives: News, events, & announcements

See you at ACMG 2018

      Delaina Hawkins    April 9, 2018    No Comments on See you at ACMG 2018
ACMG

We’re looking forward to seeing you all at the 2018 ACMG Annual Clinical Genetics Meeting. This year the Golden Helix Team will be represented by President & CEO, Andreas Scherer, Senior Product Engineer, Nathan Fortier, and myself, Marketing Manager, Delaina Hawkins. Make sure to stop by and say hello! You can find Golden Helix in booth #1306: We’ve put together a series of… Read more »

Clinical Variant Interpretation Based on ACMG Guidelines – Part I

VSClinical

The clinical interpretation of variants is time-consuming and requires attention to details. Clinicians are being asked to thoroughly review any variants that could potentially cause disease. There are guidelines for the interpretation of variants relating to hereditary risk, germline diagnostics, and molecular oncology panels, such as those issued by the American College of Medical Genetics (ACMG), which are nationally and internationally… Read more »

Secondary Analysis 2.0 – Version 2

Next-Gen Sequencing promised to be the ultimate paradigm when it comes to genetic research and clinical testing since it contains the complete genetic information. When it comes to the current reality in testing labs, there are still many types of additional testing paradigms used to analyze in particular so-called copy number variations (CNVs). Among those, labs still widely use Chromosomal… Read more »

Small-Lab VarSeq PowerPack

VarSeq PowerPack

Ready to take your analysis to the next level? Our Small-Lab VarSeq PowerPack enables users to move their analysis from FASTQ to clinical reporting through one streamlined pipeline. Here’s what’s included: VarSeq VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and analyze variants for gene panels, exomes, and whole genomes. VS-CNV… Read more »

Third-Place Abstract Competition Winner

I would like to congratulate our third and final winner of the 2017-18 Abstract Competition, Suxu Tan, a current PhD Student at Auburn University. Our first and second place winners, Michael Iacocca and Nicole Weaver, performed their research using VarSeq. Suxu, however, used SVS to conduct the research in his paper ‘GWAS analysis of QTL for resistance against Edwardsiella ictaluri in… Read more »