Mary Makris

Dr. Scherer is a Keynote Speaker at Genomics 2015

ANDREAS SCHERER_large_headshot

A widely attended conference that is coming up on September 21-23 is the third international conference on Genomics 2015 in San Antonio, Texas. The theme of this year’s conference is “Implications and Impacts of Genomic Advances on Global Health“, which promises to provide some interesting presentations and discussions. Current issues in the field to be addressed include next-gen sequencing, clinical and cancer genomics, parmacogenomics, bioinformatics and biotechnology. A main focus of the conference is to deliver recent achievements and scientific advancements in each of these respective fields to the attendees.

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Mary Makris

An Introduction to Hilal Al Shekaili

Al-Shekaili (2)

The past few months our webcast has featured a winner from our Annual Abstract Challenge, and we are happy to have our second place winner, Hilal Al Shekaili, as our speaker for September. Hilal’s submission surrounded novel genetic variants in a consanguineous family with pyridoxine-dependent epilepsy, and he will speak on his studies next Wednesday, September 9th (register here). To preclude the upcoming webcast, here is an introduction to Hilal and his research.

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Gabe Rudy

OMIM Coming to VarSeq

Update to SVS

When it comes to down to it, the genomic variants we collect in a research and clinical setting are impossible to interpret without that important link of how genes are related to phenotypes.

Indisputably, the Johns Hopkins project to catalog all evidence related to inheritable Mendelian diseases is our best repository of this evidence.

Online Mendelian Inheritance in Man (OMIM) was founded in the ‘60s by the pioneering geneticist Dr. Vic McKusick at Johns Hopkins with the bold aim to be a full-text, comprehensive reference of all scientific evidence on the relationship between phenotype and genotype.

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Gabe Rudy

Between Two Bases: Coordinate Representations for Describing Variants


Have you ever scratched your head when looking up a variant and it seems like the number you have for its position is one off from what it looks like in the file or database? You may be running into the dreaded world of 1-based versus 0-based coordinate representation!

If it’s any consolation, I can promise that all the bioinformaticians and computer scientist who are responsible for building those databases and defining those file formats have also probably scratched their head staring at a similar disparity.

From a tool builders perspective, I can assure you we have the best intentions when making the calls on how to represent variants in files, websites and in backend data stores!

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Greta Linse Peterson

GxE Regression Option to be Available in SVS

Update to SVS

We are pleased to announce that another one of the most asked for features is going to be a part of our SNP & Variation Suite™ software, Gene by Environment Interaction Regression (also known as GxE Regression). Earlier this year other highly asked for features were added to SVS including applying a prediction model to a new dataset, cross-validation for genomic prediction, and meta-analysis. It is safe to say that our customer requests have been instrumental in driving development this year!

Before this latest update, Numeric Regression was already a powerful workhorse, including full versus reduced model regression, moving window regression and step-wise regression. All of these regression models allowed for accounting for covariates of various types, for both logistic and linear regression (binary and quantitative dependent variables). Numeric Regression did allow for the option to add interaction terms, but these interactions had to be explicitly stated and were designed more for covariate by covariate interaction terms and not covariate by SNP or gene interactions.

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Andrew Jesaitis

Coverage Statistics Come to VarSeq


A prerequisite for clinical NGS interpretation is ensuring that the data being analyzed is of high enough quality to support the test results being returned to the physician. The keystone of this quality control process is coverage analysis. Coverage analysis has two distinct parts.

  1. Ensure that there is sufficient coverage to be confident in called variants
  2. Make certain that no variants went undetected in tested regions due to an insufficient number of reads

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Ashley Hintz

Quality Assurance: Is it a Boy or Girl?


A common question that comes through support is if there are options in SVS for doing gender inference or checks. There is indeed functionality in SVS for this QC check!  This function is under the Genotype Menu for Sample Statistics; there are a lot of great statistics available to check the quality of your data in SVS, but I’ll walk you through the Gender Inference tool.

This functionality takes your specified sex chromosome and calculates the heterozygosity rate, and based on the desired threshold will provide a call for the inferred gender per sample. This functionality is also designed to work for animals with a ZW sex determination system, such as chickens and some species of fish and reptiles. Figure 1 shows the menu options for a chicken GWAS dataset with the Z Chromosome selected for gender inference.

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Mary Makris

Our Customers’ Success

August is off to a great start, especially for some of our customers who have recently published. I wanted to take a minute to share their work with you.

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Cheryl Rogers

Dr. Folefac Aminkeng Publishes in Nature Genetics


Today I wanted to take a moment to recognize a long-time Golden Helix customer, Dr. Folefac Aminkeng of the Canadian Pharmacogenomics Network for Drug Safety and the University of British Columbia on his recent publication A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancerin Nature Genetics.

Aminkeng and his colleagues performed a genome-wide association study in 280 patients treated for childhood cancer to investigate the susceptibility to anthracycline-induced cardiotoxicity (ACT). ACT has been previously associated through candidate gene studies in the past, however studies lacked in size, replication and functional validation. However, the group’s work identified a nonsynonymous variant in RARG as being highly associated with ACT, altering function, which provides new insights into this severe drug reaction.

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Mary Makris

An Introduction to Vivien Sheehan

Dr. Vivien Sheehan

Last month our webcast featured the third place winner of our Annual Abstract Challenge, Dr. Raluca Mateescu, and August’s webcast will feature co-winner, Dr. Vivien Sheehan. Dr. Sheehan’s submission last winter surrounded the pharmacogenomics of hydroxyurea in sickle cell anemia, and we are excited to have her present this research for our Golden Helix community next week (August 12th, register here!). As an introduction to the webcast, here is some background on Dr. Sheehan and her research.

Dr. Vivien Sheehan is an Assistant Professor of Pediatrics at the Baylor College of Medicine and a part of the Cancer and Hematology Center at Texas Children’s. Sheehan specializes in sickle cell disease and her projects range from clinical and translational research to basic science studies. Her current translational research project uses whole exome sequencing to study the pharmacogenomics of hydroxyurea. Currently, hydroxyurea is the only drug treatment for sickle cell disease. Some of her clinical projects include investigations into the effects of hydroxyurea on red cell rheology, including oxygen carrying capacity and red cell density. The investigations are the foundation of a clinical trial studying their effectiveness as a treatment for Hemoglobin SC disease.

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