Hearing loss is the most common sensory defect in humans. It affects roughly 1 in 500 newborns, and by the age of 80 approximately 50% of people have some type of hearing loss. Hearing loss has become an enormous burden in healthcare. Perhaps more importantly, studies have shown that hearing loss also affects one’s quality of life, lowering social interactions… Read more »
As spring ends and summer begins here in Montana, we wanted to share another round of customer publications. It’s so important to us that our software plays a role in our client’s success, and we love to display the fruit of their hard efforts each month. Here are a few of the publication highlights: Bradley Aouizerat of UCSF and colleagues published… Read more »
The Bioinformatics Program at Rutgers Cancer Institute of New Jersey, the state’s only National Cancer Institute-designated Comprehensive Cancer Center, plays an integral part in the center’s precision medicine program helping to bring personalized medicine to patients in a timely manner. The Program needs to determine what mutations from a tumor are relevant to a particular therapeutic option, bringing the right… Read more »
King Abdulaziz Medical City (KAMC) in Riyadh commenced its operations in May 1983. Since then, it has continued expanding, while providing services for a rapidly growing patient population in all of its catchments areas. Today, King Fahad National Guard Hospital has evolved to be part of the King Abdulaziz Medical City with many other prominent medical centers. Since its inauguration… Read more »
Dr. James Fielding Hejtmancik and his team at the National Eye Institute’s Ophthalmic Genetics and Visual Function branch, use linkage and association studies to better understand the genetic mechanisms of inherited eye disease. The team investigates both Mendelian and complex diseases as well as functional work with a focus on cataracts, retinal degenerations, myopia and corneal dystrophies. “If it affects… Read more »
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 »
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 »
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 individuals with schizophrenia. Here are a few of the highlights: Christa Kuehn of the Liebnez Institute for Farm Animal Biology and colleagues published Epistatic interactions between… Read more »
In just a few days, Golden Helix will arrive in Barcelona, Spain to attend the 2016 European Society of Human Genetics Conference (ESHG). It has been some time since our team has been represented at ESHG and we are thrilled to see some of our European customers and meet some new faces in the community. This year the Golden Helix team will… Read more »
Scott Diehl, a professor and geneticist at Rutgers School of Dental Medicine, performs family studies, association studies and gene mapping to discover the genetic causes of periodontal diseases. Originally, Diehl had a large team of bioinformaticians in the lab to help with his analyses, but the high cost of such personnel created the need for another solution. With Golden Helix’s… Read more »
Wednesday, May 11th 12:00 pm EDT VarSeq contains default workflows for Trio analysis which include filter chains for identifying de Novo and Compound Heterozygous variants, but what if you have data for a full Quad or even just a few siblings? How could your VarSeq workflow be adjusted to handle this custom family structure?In this presentation we will demonstrate how… Read more »
Dr. Folefac Aminkeng, first place winner in this year’s Abstract Challenge, will present his work to the community via a live webcast on Wednesday, April 20th at noon EDT. Dr. Aminkeng is a Postdoctoral Fellow at The Centre for Molecular Medicine and Therapeutics (CMMT) at the University of British Columbia in Vancouver, BC. Aminkeng’s research focus is the pharmacogenomics of adverse… Read more »
Recent Customer Publications Recently we announced that our customers named the Golden Helix software in 1,000 published articles! It was quite an honor for us and we are excited to start working toward 2,000. To start us off, here are a few of our recent customer publications. Fielding Hejtmancik and his colleagues at the NEI published, Polymorphism rs7278468 is associated with… Read more »
Golden Helix Featured in 20 Most Promising Biotech Technology Solution Providers for 2016! This month, CIO Review released a Biotech Technology Special in which Golden Helix was named among the 20 most promising biotech technology solution providers for 2016. Read the interview with our CEO, Andreas Scherer here: Empowering Precision Medicine through Next-Gen Technology Our customers are monumental in this… Read more »
Wednesday, April 6th 12:00 pm EDT As the number of samples and associated data volume in a testing lab increases, it becomes imperative for labs to leverage state of the art warehousing technology that not only organizes data, but also aides and enables researchers and clinicians to perform further analysis, and ongoing research. Built on the algorithms and high-performance storage… Read more »
Concepts and Relevance of Genome-Wide Association Studies Genome-Wide Association Studies continue to be a very effective method for determining the underlying cause of disease, Golden Helix is happy to share our long-standing knowledge with the community. We are very happy to announce that “Concepts and Relevance of Genome-Wide Association Studies”, a paper surrounding GWAS was recently published in Science Progress… Read more »
We, at Golden Helix, would like to take the time to highlight one of our long time customers on her recent success. Since the beginning of 2015, Dr. Kazima Bulayeva of the Vavilov Institute of General Genetics (VIGG), has published in 10 scientific publications including two times Nature Genetics. We are very excited to share the research she is performing using the… Read more »
Headed to Tampa! For the first time, Golden Helix will be attending the Annual Clinical Genetics (ACMG) meeting. This year, the meeting is being held in Tampa, Florida and we are excited to visit with our customers and meet new people in the field! Where to Find Us You can find the Golden Helix team in booth #435 in the… Read more »
We want to say congratulations to all of our customers who have recently published! It’s always great to see all the new research and advancements our clients are doing, and how the Golden Helix software is assisting in that. With that, here are the most recent customer publications for the month! L. Nguyen and Russel Lyons of the University of… Read more »
Benjamin Darbro, MD, PhD at the University of Iowa, uses VarSeq® software for Clinical Testing Founded by Hans Zellweger in the 1960’s, The Shivanand R. Patil Cytogenetics and Molecular Lab at the University of Iowa has a long history of clinical testing, seeing 45 years of advancements. Today, the lab is mainly focused on oncology, pre and post-natal genetics testing… Read more »
