Golden Helix Newsletter

Variant Annotation
To Impute, or Not to Impute
by Dr. Bryce Christensen,
Director of Services & Statistical Geneticist

Genotype imputation is a statistical technique for estimating sample genotypes at loci that were not directly assayed by sequencing or microarray experiments. There are several reasons why you might want to use imputation in a research study. For example:

  • Improve call rates in GWAS by imputing sporadic missing genotypes
  • Harmonize the data content from different GWAS genotyping platforms so that they can be analyzed together in meta-analysis or mega-analysis
  • Increase density of genotype calls for fine mapping or to identify candidate causal variants at a susceptibility locus
These are all important applications for imputation technology, and can make significant contributions to a successful study. There is also a fourth application often cited for imputation: Continue reading »

New and Updated Annotation Tracks Now Available!
by Jami Bartole, Tech Support

In recent months we have been updating our public annotation library to include the most recent versions of existing sources as well as include new sources. Each of these annotation sources are compatible with our three major products (SVS, GenomeBrowse and VarSeq) and can be used for visualization, annotation and filtering. Continue reading »

VarSeq by Golden Helix
Golden Helix and Fluxion Biosciences Join in a Global, Value-Added Reseller Agreement
by Cheryl Rogers, Director of Marketing

Golden Helix and Fluxion Biosciences announced a collaboration in a value-added reseller relationship. The relationship will bring the VarSeq software application to Fluxion's global client base providing them with a method to study tumor DNA in the circulation. Fluxion is proud to offer the capability as it helps move them toward their goal of offering a complete sample-to-answer workflow for NGS profiling of cancer from a blood sample.Continue reading »

SVS, Population Genetics, & 1000 Genomes Phase 3
by Dr. Bryce Christensen,
Director of Services & Statistical Geneticist

One frequent question I hear from SVS customers is whether whole exome sequence data can be used for principal components analysis (PCA) and other applications in population genetics. The answer is, "yes, but you need to be cautious." What does cautious mean? Let's take a look at the 1000 Genomes project for some examples. Continue reading »

VarSeq by Golden Helix
PreventionGenetics to Use GoldenHelix's VarSeq for Dx Test Offering
by Cheryl Rogers, Director of Marketing

Golden Helix announced our collaboration with PreventionGenetics as they prepare to implement the VarSeq software into their exome sequencing pipeline.

The VarSeq software will allow PreventionGenetics to offer an exome test by dramatically speeding up the analysis process. VarSeq will narrow down sequence data into gene(s) of interest based on inheritance patterns, facilitating the identification of clinically relevant variants based on DNA sequence. PreventionGenetics plans to release exome sequencing for clinical diagnostics by mid-2015. Continue reading »
   Latest Webcast
Getting More from GWAS
It is often possible to gain additional insights into your GWAS data by looking beyond individual SNP associations to consider more complex genetic features, such as haplotypes or homozygous segments. Some haplotypes may have stronger trait associations than are observed for the constituent SNPs. Analyzing runs of homozygosity (ROH) may reveal associations with recessive haplotypes or identify loci with multiple associated alleles.

In this webcast, Dr. Bryce Christensen will review the fundamentals of GWAS, with particular emphasis on haplotypes, ROH, and other multi-marker analysis methods.
View recording »

   Product Updates
SVS 8.3.1 Release Notes »
VarSeq 1.1.0 Release Notes »

NIH researchers reveal link between powerful gene regulatory elements and autoimmune diseases

Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the human immune system. The findings, published in Nature today, open the door to new research and development in drugs and personalized medicine to help those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis.
Continue reading »

Researchers detect cancer precursors in blood DNA before disease develops

Cost-effective, high throughput technologies used to analyze DNA are uncovering variations in our genetic code. Increasing numbers of these variations, sometimes referred to as mutations, are implicated in disease, including many cancers. With the ability to sequence DNA in the clinic, doctors can more definitively diagnose and predict patients' personal risks for developing cancer, based on the presence of these variants in their DNA.
Continue reading »

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About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research 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, 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 personalized medicine. Golden Helix products and services have been cited in over 850 peer-reviewed publications.