Tag Archives: Golden Helix

Springtime for SVS: Updates to PhoRank, Platform Support and Genotype Imputation

VarSeq Updated

Recently, we added a natively supported Genotype Phasing and Imputation capability in SNP & Variation Suite 8.7.0. Since then we have had fantastic feedback and adoption as folks take advantage of the BEAGLE 4.0 and 4.1 algorithms from within their existing SNP GWAS and agrigenomic workflows. One piece of feedback we heard from our time at PAG, ACMG and our… Read more »

4th Annual Abstract Challenge Winners

4th Annual Abstract Challenge

This year’s annual Abstract Challenge was once again a successful event. We want to thank all that participated. This year we had nearly 50 submissions and our decision was a difficult one. Here are the selected winners. This year, we had dual first place winners; Reza Sailani and Jingga Inlora of the Michael Snyder lab in the Department of Genetics at… 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 »

GWAS 3.0

      Andreas Scherer    February 7, 2017    No Comments on GWAS 3.0
GWAS eBook

Genome-wide association study (GWAS) technology has been a primary method for identifying the genes responsible for diseases and other traits for the past ten years. GWAS continues to be highly relevant as a scientific method. Over 2000 human GWAS reports now appear in scientific journals. In fact, we see its adoption increasing beyond the human-centric research into the world of… 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 »