Several of our customers have published recently, using our SVS and VarSeq software, and we love sharing their work with you. Congrats to all! Sebastian Mucha and Joanne Conington of Scotland’s Rural College along with colleagues collaboratively published Genome-wide association study of footrot in Texel sheep in Genetics Selection Evolution which used GWAS to investigate links between ovine footrot scores and molecular polymorphisms… Read more »
Some of our customers have recently published using our SVS and VarSeq software in their studies. We wanted to share their work and congratulate everyone on their success! Maria Skerenova at the Institute of Clinical Biochemistry and her colleagues published Genetic variants in interleukin 7 receptor α chain (IL-7Ra) are associated with multiple sclerosis risk and disability progression in Central European… Read more »
Several of our customers have published recently, using the SVS software and I wanted to share their work. Congrats to all! Daria Babushok and colleagues at The Children’s Hospital of Philadelphia published Emergence of Clonal Hematopoiesis in the Majority of Patients with Acquired Aplastic Anemia in the Cancer Genetics Journal which used comparative whole exome sequencing to evaluate clonal hematopoiesis in acquired aplastic… Read more »
A few of our customers have published recently and I would like to take the time to both recognize them for their achievement and pass on their articles. Enjoy! Kazima Bulayeva at the Vavilov Institute of General Genetics and her colleagues recently published Genomic Structural variants are linked with intellectual disability in the Journal of Neural Transmission. The paper looks at mutations… Read more »
With January officially in the bag, 2015 is off to a great start, especially for some of our customers who have recently published. I wanted to take a minute to share them with you. Sander van der Laan at University Medical Center Utrecht, published Variants in ALOX5, ALOX5AP and LTA4H are not associated with atherosclerotic plaque phenotypes: The Athero-Express Genomics Study which assessed the impact of common variants… Read more »
As Dr. Andreas Scherer mentioned in a blog post earlier this year, Golden Helix is committed to supporting the education of the next generation of genetic researchers. And as such, over the course of 2014, we at Golden Helix are working with education programs across the US and Canada to make teaching and learning bioinformatics easier. This fall semester at the… Read more »
The Golden Helix team enjoys following our customers’ success. And we would like to share some recent client work to demonstrate what is possible with our software, as well as to inspire researchers to continue questioning current scientific norms.
Genetic improvement in livestock, particularly dairy cattle, has been a priority for both industry and researchers for nearly a century. While the animal itself is the foundation for improvement, our research and the implementation of improvement has progressed with developing technologies and priorities. In terms of genetics, we have evolved from basic measures of heritability to identifying specific mutations and… Read more »
When many people think of learning disabilities such as dyslexia and language impairment, they typically do not think of a biological or medical condition. Even more rarely do people think of these conditions as being the result of biological and genetic phenomena. However, that is exactly what I have thought of every day during my doctoral training in the Department… Read more »
For lead geneticist Dr. Matthew McClure, of the Irish Cattle Breeding Federation (ICBF), finding a software program that could handle massive amounts of data as well as more than the standard twenty-three pairs of chromosomes found in humans was a challenge. McClure says, “Agriculture often feels like the black sheep of the genomics industry. The majority of current genetic analysis… Read more »
Utilizing Identical Twins Discordant for Schizophrenia to Uncover de novo Mutations We are living in exciting times – the reality of high-resolution Cand individual genome sequencing now offers renewed hope in the search for the causes of complex diseases. When this technology is combined with genetic relationships, individual sequences add unrivaled proficiency. Our lab is located in London, Ontario, Canada… Read more »
Humans are said to have a 0.1% rate of diversity, seemingly small, but actually quite significant when considering the future of personalized medicine. Gaining a deeper understanding of this genetic variance can help determine susceptibility to disease as well as medicinal response and outcomes. One-third of human genetic diversity can be found in a likely contender for the birthplace of… Read more »
Thirteen years ago, Dr. Robert Kleta had never heard of a genome-wide association study (GWAS), let alone considered doing one. Now, Dr. Kleta and his colleagues at the University College of London regularly publish articles in The New England Journal of Medicine and other journals on the genetics of rare diseases and their associated phenotypes. States Kleta, “For rare diseases,… Read more »
Dr. Folefac Aminkeng is a Postdoctoral Fellow at The Centre for Molecular Medicine and Therapeutics (CMMT) at the University of British Columbia in Vancouver, BC, Canada. He utilizes GWAS studies to identify single-nucleotide polymorphisms (SNPs) that might be associated with serious adverse drug reactions (ADRs) in cancer therapeutics. The field of pharmacogenomics—how one’s genetic makeup affects drug response—has grown exponentially… Read more »
Dr. Peter K. Gregersen, head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute for Medical Research, utilizes GWAS, targeted arrays, and sequencing technologies to identify genes associated with human autoimmune disorders. The arrival of the GWAS platform in the mid-2000’s greatly accelerated the pace of gene discovery—as well as accelerating the number of… Read more »
Thank you to everyone who joined us yesterday for a webcast by Dr. Ken Kaufman of Cincinnati Children’s Hospital: “Identification of Candidate Functional Polymorphism Using Trio Family Whole Exome DNA Data.” Over 750 people registered for this event and 430 attended – a new Golden Helix record! If you missed the webcast (or would like to watch it again), the… Read more »
Dr. John Curtin is a Lecturer in Functional Genomics at the University of Manchester where he works with a large team studying the development of asthma in a birth cohort. This group has received data on study subjects periodically for over a decade including before birth. Given how much data there is, data management is a big deal to Dr…. Read more »
Editor’s Note: This case study was written while Dr. Gonzalo Rincon was with the University of California, Davis. Dr. Rincon is now working as a Principal Investigator in Animal Genetics at Zoetis. Gonzalo Rincon, DVM is a Project Scientist in the Medrano Lab, part of the Department of Animal Science, at the University of California, Davis. While the lab works… Read more »
Dr. Julia Pinsonneault is a Research Scientist at The Ohio State University where she works to find biomarkers that guide effective treatment. Published recently in Neuropsychopharmacology, Julia has found success using SVS to find novel associations that move her research forward. Usually managing 3-5 research projects at a time from various cohorts, she found time in her busy schedule this… Read more »
Dr. Raman Babu is a Maize Molecular Breeder at the International Maize and Wheat Improvement Center (CIMMYT). Like his counterparts conducting human genetic research, Babu used to rely entirely on free, open-source tools to complete his work. Frustrated with continual crashes and technology that was developed in the pre-SNP era, Babu switched to SNP & Variation Suite (SVS) almost a… Read more »
