Using Pharmacogenomics to teach Intro to Chemistry

Dr. Jeffrey Moore

As the need to educate prospective healthcare professionals in the interpretation of genetic data increases, Dr. Jeffrey Moore at the University of Illinois – Urbana-Champaign is using genetics in his chemistry courses. In doing so, Moore is creating a strong connection between the content in his courses and the underlying principles of health and medicine. Last year, Dr. Moore presented a webcast… Read more »

Much Love for VarSeq: ESHG 2016 Success

ESHG 2016

I’m very glad I had the chance to attend ESHG 2016 in Barcelona and talk to so many people about Golden Helix and our software at our booth. ESHG may be the little sibling in size compared to ASHG, but my impression is that it punches above its weight in terms of advancing human genetics applicability to human health and… Read more »

Guest Presentation – Identifying Cardiomyopathy Genes

Dr. Robert Hamilton

Using Whole Exome Sequencing in distant relationships to identify cardiomyopathy genes Wednesday, June 8th 12:00 pm EDT Cardiomyopathy (DCM; MIM 115200) are myocardial diseases that are frequently hereditary, yet remain gene-elusive for 60% of affected families. Traditional gene discovery techniques dependent on multigenerational samples are difficult to apply. This is because 1. Disease is often impenetrant in the youngest generation,… Read more »

Recent Customer Publications

      Mary Makris    May 24, 2016    No Comments on Recent Customer Publications
Customer Publications

Today we have another round of customer publications from our incredible clients to share with you! These latest pubs cover a variety of topics, from rat-tail syndrome in cattle to the first GWAS analysis of attempted suicide by schizophrenics. Here are a few of the highlights: Christa Kuehn of the Liebnez Institute for Farm Animal Biology and colleagues published Epistatic interactions between at least… Read more »

CADD Scores: Rank and Filter in Harmony!

CADD Score

There used to be much energy expended at conferences, bioinformatics forums and even publications about what was the better strategy for interpreting variants of clinical significance: Rule-based filtering and classification mechanisms or rank-based prioritization through all-encompassing “pathogenicity” scores. Both have shown to be effective. Rule-based systems, as exemplified in this filtering diagram in Baylor’s ground-breaking paper on clinical whole-exome sequencing… Read more »