Author Archives: Delaina Hawkins

About Delaina Hawkins

Delaina Hawkins, Director of Marketing & Operations at Golden Helix, joined the team in June of 2017. She is passionate about elevating a company to effectively grow user engagement, build brand loyalty and ultimately drive sales and revenue. When she isn't in the office, she enjoys being outdoors with friends and family.

ESHG 2017 – Heading to Copenhagen!

         May 22, 2017
ESHG 2017

In just a few days, Golden Helix will arrive in Copenhagen, Denmark to attend the 2017 European Society of Human Genetics Conference (ESHG). We are excited to be returning to ESHG for the second year in a row! It’s always a pleasure to see our European customers and meet some new faces in the community. This year the Golden Helix team will be… Read more »

Sentieon Genomic Tools Webcast Q&A

         May 18, 2017
Sentieon Webcast

Yesterday we had an excellent webcast presentation featuring Sentieon’s Dr. Donald Freed. Golden Helix recently partnered with Sentieon to integrate their secondary analysis tools into our software stack, and this presentation is an introduction to their genomic tools. Please check the webcast out here if you missed it! There were a number of questions asked in the live event, so in… Read more »

Webcast: The Sentieon Genomic Tools

         May 4, 2017
Sentieon

We are excited to announce our next webcast, The Sentieon Genomic Tools – Improved Best Practices Pipelines for Analysis of Germline and Tumor-Normal Samples. This webcast is scheduled for Wednesday, May 17th at noon EST and will focus on our new partnership with Sentieon. Wednesday, May 17th 12:00 pm EST With next-generation sequence datasets frequently reaching petabytes in size, processing genomic data accurately… Read more »

Recent Publications from SVS Users

         April 25, 2017
customer

We had lots of customers publish their work using our SVS software, and I wanted to share their work with you. Congrats to all! Here are some of the highlights: Francesca Fernandez of the University of Wollongong along with colleagues published Effects of common GRM5 genetic variants on cognition, hippocampal volume and mGluR5 protein levels in schizophrenia in Brain Imaging and… Read more »

CNV User Perspective Webcast Q&A

         April 20, 2017
CNV User

Nathan Fortier’s webcast yesterday, CNV Analysis in VarSeq – A User’s Perspective, was an excellent demonstration of our CNV capabilites, so check it out here if you missed it. There were a number of questions asked in the live event, so in today’s blog post I wanted to recap the Q&A session. Question: Do the reference samples have to be from the… Read more »

Identifying genetic variants associated with rare Mendelian Diseases

         April 18, 2017
genetic variants

We are pleased to announce our next webcast, Identifying genetic variants associated with rare Mendelian Diseases. The live event is is scheduled for Wednesday, May 3rd at noon EST. Here are the specifics: Wednesday, May 3rd 12:00 pm EST Dr. Jingga Inlora is a postdoctoral fellow in the Snyder lab at Stanford University. In this webcast, Inlora will present on… Read more »

CNV Analysis in VarSeq – A User’s Perspective

         April 6, 2017
User's Perspective

We are pleased to announce our next webcast, CNV Analysis in VarSeq – A User’s Perspective. The live event is is scheduled for Wednesday, April 19th at noon EST. Here are the specifics: Wednesday, April 19th 12:00 pm EST Clinical labs must have the ability to go from a collection of samples to a professional report documenting a short list… Read more »

Recent Customer Success

         April 4, 2017
customer

We are kicking off the second quarter with a round of recent customer publications. There are a few new faces represented below, and we are delighted to share their success with you. We hope you find their research as interesting as we do! Peter Harris of Mayo Clinic and colleagues published PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation,… Read more »

WES Research at Stanford University

         March 23, 2017

Join our upcoming webcast : Wednesday, April 5th 12:00 pm EST Dr. Reza Sailani is a Research Fellow in the Genetics department at Stanford University. To provide an overview of his research, Sailani will present on the following two recent studies he has conducted: Association of AHSG with alopecia and mental retardation (APMR) syndrome: Alopecia with mental retardation syndrome (APMR) is… Read more »

We’re heading to Phoenix for ACMG 2017

         March 16, 2017
ACMG 2017

ACMG 2017 is just around the corner! We are halfway through March already and it’s just about time to head off to sunny and warm Phoenix, Arizona. While the temps have been mostly mild for the last few weeks in Montana, I bet those of you in the northeast are looking forward to your time in Phoenix! You will find… Read more »

CNV exome analysis coming to VarSeq!

         March 14, 2017
CNV Exome Analysis

VarSeq will soon provide CNV exome analysis! In our webcast last week, we announced that we took our CNV caller, VS-CNV, to the next level. Along with the ability to call CNVs at the single-exon level in NGS gene panels, VarSeq can soon be used to call large loss of heterozygosity (LOH) and  CNV events at the exome level. The combination… Read more »

Recent Customer Publications

         March 2, 2017
customer

It’s always exciting to read the latest articles our clients have published, and this month there are some unique topics. Learn more about the genomics of raccoon dogs and cattle tissue infection in some of the articles highlighted below! Holly Neibergs of Washington State University and colleagues published Identification of loci associated with susceptibility to Mycobacterium avium subspecies paratuberculosis (Map)… Read more »

Calling Large LOH and CNV Events with NGS Exomes

         February 22, 2017
User's Perspective

We are pleased to announce our next webcast, Calling Large LOH and CNV Events with NGS Exomes. The live event is scheduled for Wednesday, March 8th at noon EST. Here are the specifics: Wednesday, March 8th 12:00 pm EST Next Generation Sequencing Exomes are a powerful assay used in both clinical and research settings to discover novel and rare small variants…. Read more »

Clinical Reporting Made Easy

         February 2, 2017

Join our upcoming webcast – Clinical Reporting Made Easy Wednesday, February 15th 12:00 pm EST Clinical labs need to be able to process samples down to a short list of variants and publish a professional report. VSReports helps scientists and clinicians alike create timely, actionable reports that can improve clinical decision making and streamline patient care by seamlessly incorporating the… Read more »

Recent Customer Success

         January 31, 2017
customer

Just as we expected, 2017 has kicked off with a flurry of new publications by our customers. We even had a publication from a client using our VarSeq software! Congratulations to all, please take a look at some of the articles we have highlighted below: Reza Sailani of Stanford University and colleagues published Association of AHSG with alopecia and mental retardation… Read more »

Fighting Childhood Leukemia at St. Justine

         January 19, 2017

Acute lymphoblastic leukemia (ALL) is the most frequently diagnosed cancer in children and one of the leading causes of death due to disease in children. Dr. Daniel Sinnett, along with Pascal St-Onge and their colleagues at Sainte-Justine University Health center have been investigating the molecular determinants of the disease to improve detection, diagnosis and treatment. One particular area of study… Read more »

PAG XXV – Heading to sunny San Diego!

         January 10, 2017
San Diego

This Saturday, Plant & Animal Genome (PAG) XXV will kick off in sunny San Diego! Here in Montana, we have had a brutally cold winter thus far. I, like many of you, am looking forward to San Diego’s sunny, warm temperatures! Since last year’s PAG, SVS has had a number of updates including the integration of BEAGLE for imputation (coming soon!),… Read more »

WEBCAST: BEAGLE Imputation in SVS for SNP Data

         December 27, 2016
genotype imputation

Our webcast series for 2017 is starting off by giving the Golden Helix community their first look at our addition of genotype imputation into SVS! On Wednesday, January 11th, Gabe Rudy will discuss how users can now run their genotype phasing and imputation on human and animal data as part of their SVS analytics workflow. Wednesday, January 11th @ 12:00 PM, EST Genotype imputation… Read more »

Latest Customer Publications!

         December 20, 2016
customer

It sure is feeling like Christmas time in Montana with the piles of fluffy snow and negative temperatures! We are wrapping up the month with a few more publications from our clients, and we couldn’t be happier with how many articles were published in 2016! Congratulations to everyone who was able to get it done this year, and we are looking… Read more »

Case Study: Children’s Hospital Los Angeles

         December 6, 2016
Laura Li

Dr. Laura Li and her colleagues at the Children’s Hospital Los Angeles (CHLA) are working to determine the underlying genetic causes of Optic Nerve Hypoplasia (ONH), which is still unclear. ONH is the absence or under-development of the optic nerve and is currently the leading ocular cause of vision impairments and blindness in young children. ONH can also be combined… Read more »