Exclusive Look at Sentieon TNscope Q&A

VS-CNV Annotations

Sentieon TNscope is a platform dedicated to the identification of tumor-normal somatic variants including single nucleotide variation (SNV), indel, as well as structure variations (SVs). In our recent webcast, Dr. Donald Freed, Bioinformatics Scientist at Sentieon, gave viewers an exclusive overview of the platform. The webcast generated a lot of great questions which I would like to share with you… 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 »

Second-Place Abstract Competition Winner

I hope you were able to join us for last week’s webcast where we invited first-place abstract competition winner Michael Iacocca to present on his submission “Using NGS to detect CNVs in familial hypercholesterolemia”. Today, I’d like to announce our second-place winner, Nicole Weaver, Clinical Geneticist at Cincinnati Children’s Hospital. Nicole adopted VarSeq into her research pipeline in 2015 and… Read more »

Using NGS to detect CNVs in familial hypercholesterolemia Q&A

First-place Abstract Competition Winner, Michael Iacocca, shared his research with the Golden Helix Community during our February webcast ‘Using NGS to detect CNVs in familial hypercholesterolemia‘. In this webcast, he gave a great explanation on how our CNV caller aided his team in their research. If you were unable to join us for the event, you can find a recording… Read more »

How we’re curating OMIM: It’s not as easy as you think

Relating human phenotypes to genotypes is the name of the game with OMIM, and as their website says, “is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.” The Online Mendelian Inheritance in Man (or OMIM) was originally created by Dr. Victor A. McKusick in… Read more »