In a series of previous blog posts, I gave an overview of Next Generation Sequencing trends and technologies. In Part Two of the three part series, the range of steps and programs used in the bioinfomatics of NGS data was defined as primary, secondary and tertiary analysis. In Part Three I went into more details on the needs and workflows… Read more »
We’ve had another busy few weeks for Golden Helix customers who have been hard at work publishing in all sorts of journals on all sorts of topics. (All abstracts below.) First off, from the Cedars-Sinai Medical Center in LA, “Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome” was recently in Fertility and Sterility with… Read more »
Our recent blog post about the release of SNP & Variation Suite v7.4 gave you a sneak peek into what can be achieved with the revamped SVS/Python integration, which includes the incorporation of NumPy and SciPy libraries and new graphical layout capabilities. A Python package (such as SciPy) is similar to an R package, which you may be more familiar… Read more »
As you may have guessed from the title of this post, we’ve had a lot of customers publishing in the first six weeks of 2011. We are always excited to hear about about our customers’ findings and how they were able to use SNP & Variation Suite to accelerate their research. (All abstracts below.) First, in the pharma world, congrats… Read more »
Happy New Year! Golden Helix customers published 92 papers in 2010 unveiling new associations and novel findings using SNP and Variation Suite – a great feat for all! We anticipate an even more “significant” 2011. Wrapping up last year, congrats to Subba Rao Indugula, Guangyun Sun, and Ranjan Deka over at the University of Cincinnati College of Medicine for their… 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 »
Please see our updated tutorials for CNV Analysis by visiting: http://goldenhelix.com/resources/SNP_Variation/tutorials/index.html The following statement is representative of a common question that is posed to the Golden Helix support team: “I followed all of the steps in the SVS7 CNV analysis tutorial, but my results seem kinda funny. The segment means are skewed to the left and it doesn’t look like… Read more »
Recognition this month begins with Eric Londin at Coriell Institute for Medical Research for his publication in PLoS ONE: “CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins.” (Abstract below). Also recently published in PLoS ONE is Chiara Magri with Brescia University School of Medicine on her study locating new CNVs in schizophrenia. (Abstract below) Skipping over… 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 »
Accuracy and completeness of genotype data are among the most important factors for a successful genome-wide association study (GWAS), and must not be taken lightly. The Golden Helix team is always on the lookout for methods to improve data quality, and we have recently found the BEAGLE and BEAGLECALL software packages to be very useful in this regard. BEAGLE is… Read more »
As Andy Ferrin and I drove the five-hour car ride home from a cytogenetics conference, we had a lot of time to reflect on the persistent themes we heard in presentations and dialog among conference attendees. Taking somewhat of an outsider view, we traced each complaint, each sigh of frustration, and the unverbalized assumptions behind opposing viewpoints, and they all… Read more »
In the paper Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia, Todd Lencz, Ph.D. introduced a new way of doing association testing using SNP microarray platforms. The method, which he termed “whole genome homozygosity association”, first identifies patterned clusters of SNPs demonstrating extended homozygosity (runs of homozygosity or “ROHs”) and then employs both genome-wide and regionally-specific statistical tests… Read more »
