Author Archives: Mary Marks

Recent Customer Success

         November 28, 2016
customer

We hope our Golden Helix community had a delicious Thanksgiving, and several of our customers had an additional reason to celebrate because they published this month, including one book publication! The success is overwhelming and we are happy to share it with you each month: Randovan Kasarda of the Slovak University of Agriculture and colleagues published Genetic Divergence of Cattle Populations… Read more »

WEBCAST: CNV Analysis with VarSeq

         November 22, 2016

December’s webcast will provide the Golden Helix community with a more in-depth look at CNV analysis in VarSeq. On December 7th, Dr. Nathan Fortier will discuss the challenges and metrics surrounding CNV detection and then demonstrate VarSeq’s new capability from VCF to clinical report.  Wednesday, December 7th @ 12:00 PM, EST Numerous studies have documented the role of Copy Number Variations (CNVs)… Read more »

End of Year Pricing is Here!

         November 11, 2016
Pricing

This year we have added some very important features to our software including CNV calling in VarSeq and integrating our premium annotations into SVS. We have also made many improvements to our software’s performance so that you can handle growing datasets with relative ease. In an effort to thank our community for their support throughout the year, we are happy… Read more »

Recent Customer Success

         November 3, 2016
customer

We closed October with a record number of publications from our customers! Topics ranged widely from root traits in tropical maize to pretreatment depression severity. We hope you’ll enjoy reviewing some of our favorites: Bradley Aouizerat of NYU and colleagues published Human leucocyte antigen class I and II imputation in a multiracial population in the International Journal of Immunogenetics which considered… Read more »

Agrigenomics 2.0 Webcast

         October 27, 2016
genetic variants

This month’s webcast, Agrigenomics 2.0 – Advanced Analysis to Accelerate Discovery, will feature two well known Agrigenomic researchers and long-time Golden Helix customers, Christopher Seabury of Texas A&M and Holly Neiburgs of Washington State University. These two will join our own Gabe Rudy for a look at advanced workflows in SVS to advance mammalian genetic research. We hope you can join us! Wednesday,… Read more »

Using GWAS to investigate neurodevelopmental disorders

         October 18, 2016
Sergey Kornilov

Dr. Sergey Kornilov, a Duncan Scholar in Molecular and Human Genetics at Baylor College of Medicine, combines his broad psychology background with genetics to research the genetic basis of neurodevelopmental disorders with a unique dual perspective. Neuro-developmental disorders, for example, those of the spoken and written language, affect many worldwide – up to 10% of preschool children. In most cases, these… Read more »

See you in Vancouver for ASHG 2016!

         October 13, 2016
ASHG 2016

It’s hard to believe that summer has already faded into fall and that ASHG 2016 is right around the corner! 2016 has been quite a busy year for us so far at Golden Helix. We have been working hard to bring our community the very best tools available for variant interpretation and SNP analysis. This year at ASHG, you can… Read more »

50 Most Creative CEOs to Watch

         October 5, 2016

We are excited to announce that our CEO & President, Dr. Andreas Scherer, was featured in “The 50 Most Creative CEOs to Watch” issue of Insights Success magazine this month. The article is focused on how Dr. Scherer is leading Golden Helix to deliver top bioinformatics solutions to further enable Precision Medicine. Please take a look at the article here.

Recent Customer Publications

         October 4, 2016
published

Many of our customers published throughout September using our SVS software, and we love sharing their work with you. There’s bound to be a topic among the wide variety we’ve highlighted here that will spark your interest! Maurico Arcos Burgos, Claudio Mastronardi and colleagues of the Australian National University published Mutations modifying sporadic Alzheimer’s disease age of onset in the American Journal of Medical… Read more »

Upcoming Webcast on CNV Calling of Target Regions

         September 27, 2016
CNV calling

Copy Number Variations (CNVs) play an important role in human health and disease, and the detection of CNVs in clinical samples has the potential to improve clinical diagnoses and inform treatment decisions. Yet until now, if you wanted to have CNVs on your targeted gene samples, you would need an alternative assay such as Chromosomal Microarrays (CMAs). In this webcast,… Read more »

Big Data Webcast Q&A

         September 22, 2016
Big Data Q&A

Gabe Rudy’s webcast yesterday, Big Data at Golden Helix: Scaling to Meet the Demand of Clinical and Research Genomics, was a huge success with well over 300 registered. In today’s blog post, I wanted to recap the Q&A session with Gabe. If you missed the webcast, check it out! Question:  What is the end goal for an application like Warehouse? Answer:  The… Read more »

Webcast on Big Data in Genomics

         September 8, 2016

Wednesday, September 21st @ 12:00 pm EDT Every day, the trove of genomic data is growing. Clinics are sequencing targeted genes at high read depths to report out genetic tests. Research groups are adding new exomes and genomes to their disease-specific cohorts. Agricultural breeders are genotyping their herds and flocks by the thousands of thousands. The conventional attitude to big… Read more »

Recent Customer Publications

         August 30, 2016
published

For many of you this might be a busy week with school starting up again! However, even though school is just starting, many of our customers have been publishing all summer long. Here are a few highlights from our most recent publications this August: Evaline Ibeagha-Awemu and Xin Zhao of Agriculture and Agri-Food Canada, along with colleagues, published High density genome wide… Read more »

Personalized Medicine through Tumor Sequencing

         August 23, 2016
Tumor Sequencing

Join us for a guest presentation Personalized Medicine through Tumor Sequencing by Dr. Jeffrey Rosenfeld! Wednesday, September 7th 12:00 pm EDT The identification of medications that target specific gene mutations is one of the major recent advances in cancer therapy. In 2001 Gleevec was approved to treat patients with the BCR-ABL fusion in chronic myelogenous leukemia (CML). Since then many more drugs… Read more »

Guest Webcast by Dr. Rohan Palmer

         August 4, 2016

Dr. Rohan Palmer presents: Investigating Shared Additive Genetic Variation for Alcohol Dependence Wednesday, August 10th @ 12pm EDT Abstract: Molecular genetic research has supported the use of a multivariate phenotype representing alcohol dependence in studies of genetic association. One recent study found that additive genetic effects on Diagnostic and Statistical Manual of Mental Disorder version four (DSM-IV) alcohol dependence criteria overlap,… Read more »

Recent Customer Publications

         July 28, 2016
published

It’s that time of the month again! As usual, we have several new customer publications we would like to recognize and share with you. Please check out a few of our favorite articles: In Biological Psychiatry, Ariel Martinez and Marucio Arcos-Burgos of the National Institute of Health, as well as colleagues, published An Ultraconserved Brain-specific Enhancer within ADGRL3 (LPHN3) Underpins… Read more »

Precision Medicine leverages innovative tech advances

         July 26, 2016

We are excited to announce that earlier this month an article by our CEO, Dr. Andreas Scherer, was featured in Chronicle Pharmabiz. The article is focused on how Precision Medicine is becoming a reality by leveraging the advances in technology. The excerpt below is courtesy of Chronicle Pharmabiz. Almost 2,500 years ago, Hippocrates captured one of the key principles underlying… Read more »

Our 5 Most Watched Webcasts

         July 21, 2016
5 Most Watched Webcasts

Every month hundreds of clinicians and researchers access the variety of free resources on the Golden Helix website. Our resource library hosts eBooks, webcasts and tutorials to keep the community apprised of new methods, informed on best practices and to help our customers get the most out of their software purchase. Here is a list of the 5 most watched webcasts… Read more »

Finding Rare Mutations at the Center for Rare Jewish Genetic Disorders

         July 14, 2016
Bonei Olam

Since 1999, Bonei Olam has been providing large-scale funding for fertility treatment and research. The non-profit’s mission is to provide whatever means or resources necessary to help childless couples achieve the dream of parenthood. Today, it is recognized in the worldwide medical arena for its leadership role at the forefront of reproductive medicine, research and technology. Specifically, Bonei Olam has… Read more »

Using Clinical Reports in a Gene Panel Pipeline

         June 30, 2016
Gene Panel

Upcoming Golden Helix Webcast: Using Clinical Reports as part of a Gene Panel Pipeline Wednesday, July 13th @ 12:00 pm EDT VarSeq Reports can be used as part of an automatic pipeline to quickly list variants with information that can be used to make actionable clinical decisions in a readable HTML format. Need to further filter the variants or add interpretation… Read more »