Golden Helix Newsletter

ExAC CNVs: The First Large Scale Public Exome CNV Variant Set
by Gabe Rudy
VP of Product & Engineering

ExAC CNVs were released publicly with a recent publication, providing the full set of rare CNVs called on ~60K human exomes. While there are many public CNV databases out there, this is the first one that was derived from exome data, and thus includes both extremely rare and very small CNV events.

With the recent release of Golden Helix's CNV calling algorithm on NGS target panel data, the availability of NGS-based CNV calls on public control samples is all the more relevant. So we went ahead and curated the public CNV calls and they are now available as an annotation source from VarSeq, SVS and of course GenomeBrowse.
Read the full interview »

Call for abstracts!
Andreas Scherer,
President & CEO

It is time to kick off our fourth annual abstract challenge! Our mission at Golden Helix is to enable Precision Medicine. We accomplish this by creating powerful software that enables both researchers and clinicians to complete complex analysis. This competition allows us to enable discovery by awarding software to those making an impact in the field. The competition has been very successful over the last few years and we look forward to another great year.

Our competition calls for abstracts and we will award 3 deserving applicants with a variety of prizes including a new laptop, software licenses, and the opportunity to present their work to the community in a live webcast. The contest is officially open and you can read more about the details and enter, by visiting the link below. We look forward to hearing about your work!
Learn More »

Genotype Imputation
Case Study: Children's Hospital Los Angeles
by Cheryl Rogers,
Director of Marketing

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 with brain and endocrine abnormalities which can affect motor skills, intelligence, speech and social interactions and cause hormone deficiencies.

To further investigate the possible genetic factors of ONH, the team at CHLA is conducting whole exome trio analysis with 25 families. The team uses NexGen for alignment and variant calling and then imports their VCF files into Golden Helix's VarSeq software.
Continue reading »

annotate variants
Using Assessment Catalogs in your VarSeq workflow
by Jami Bartole,
Field Application Scientist

Variant interpretation is an integral part of any workflow that results in some decisions being made about the validity and suspected functional impact of a variant in a given sample and their presenting phenotypes. The VarSeq Assessment Catalog functionality is designed to assist the VarSeq user in streamlining this process.

To include this functionality in your workflow, you will first create the Assessment Catalog framework to store the specific information you want to capture from each variant.
Continue reading »
   CEO Corner
Andreas Scherer
It's amazing how fast 2016 is coming to an end. December is the busiest time of the year, and we are grateful for all the positive feedback we are receiving. The demand for our software has never been greater. While we are closing 2016, which will be another tremendous year for us, we are already planning ahead for next year. We just opened our fourth abstract challenge We encourage clinicians as well as researchers to submit an abstract describing their work in the field of genomics. We have fantastic prizes for the top three winners who will present their work in one of our webinars next year. Also, we are getting ready to participate at PAG this coming January. It's the leading event for the plant and animal research community. We are looking forward to reconnecting with existing clients and meet with prospects in San Diego. At any rate, we wish you Happy Holidays and a successful and prosperous 2017.

  2016 End of Year Pricing Specials!

To thank our community for all their support during 2016, we put together four special pricing offers. However, these offers expire next week on December 21st, so you need to hurry if you want to lock in your savings on one of these great packages!

�$14,995 for 2 seats of VarSeq with VSReports, CADD & OMIM.
�$35,995 for VSWarehouse with access to VSReports and VSPipeline.
�$6,995 for VarSeq with CNV Calling.
�$4,250 for SVS with CADD, OMIM and OncoMD!

Get the details & request your savings here! »

   Customer Success
Our customers are ending the year right with even more new publications! We are thrilled with the amount that were published this year citing our software, and we hope to see even more in 2017. Here are some of the highlights from December:

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About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research and clinical and translational medicine for over 16 years. Our innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from microarrays and next-generation sequencing. With our solutions, hundreds of the world's top pharmaceutical, clinical laboratories, biotech, and academic research organizations are able to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for precision medicine. Golden Helix products and services have been cited in over 1,000 peer-reviewed publications.