More powerful rare variant analysis and visualization techniques We are proud to unveil SNP & Variation Suite (SVS) 7.5! The fifth installment of SVS delivers the most powerful rare variant analysis tools with the latest advances in tertiary or “sense making” methods for DNA next-gen sequencing. This release also adds some cool and productive features to our popular Genome Browser…. Read more »
Last week I was able to attend two very interesting conferences about the latest developments in the analysis of sequence data. I started the week in San Diego at the Illumina iDEA Conference and finished it in Philadelphia at Children’s Hospital of Philadelphia’s (CHOP) Third Annual Next-Generation Sequencing Symposium. The Illumina conference was an opportunity to learn about the latest… Read more »
The common disease-common variant hypothesis has established the foundation of SNP-basis genome-wide association studies for the last several years. However, with few strong associations found, researchers are beginning to consider the effects of rare variants through the burgeoning availability of DNA sequencing. Qianqian Zhu and Dongliang Ge, of the Center for Human Genome Variation at Duke University, and others recently… Read more »
Academic Software, Productivity, and Reproducible Research httpv://www.youtube.com/watch?v=pGMLCxKPMSE&NR=1 Do you ever feel like Dr. McCoy on Star Trek, where your job and expertise is to do x, but to achieve your goals you also have to do y and z, which you either don’t want to do or don’t have the skills to do? Genetic researchers are faced with this every… Read more »
When you think about the cost of doing genetic research, it’s no secret that the complexity of bioinformatics has been making data analysis a larger and larger portion of the total cost of a given project or study. With next-gen sequencing data, this reality is rapidly setting in. In fact, if it hasn’t already, it’s been commonly suggested that the… Read more »
Let’s kick off this month’s recognition with Audrey Papp and Wolfgang Sadee at Ohio State University for their work on “Flavopiridol Pharmacogenetics: Clinical and Functional Evidence for the Role of SLCO1B1/OATP1B1 in Flavopiridol Disposition” just published in PLoS ONE. (All abstracts below.) Also in pharmacogenetics (albeit in mice) this month is Tristan Sissung at the NIH National Cancer Research. His… Read more »
The week of October 10-16th was a busy time in our industry. Hundreds of biostatisticians, genetic epidemiologists, and statistical geneticists gathered in Cambridge, MA for the annual conference of the International Genetic Epidemiology Society (IGES) on October 10-12, followed by the biennial Genetic Analysis Workshop (GAW) on October 13-16. I had the opportunity to participate in both conferences, and I… Read more »
The Golden Helix sales team recently came to me for recommendations regarding best practices for incorporating public controls in SNP GWAS. It seems that there has been a surge of questions regarding this practice over the past few weeks from our customers. Initially, I laughed at the irony of being asked to outline the best practices for what I see… Read more »
