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October 13, 2011
RNA-Seq is becoming the tool of choice for gene expression studies, as it can facilitate the investigation of phenomena beyond the reach of traditional microarrays, such as novel transcripts and isoforms, alternative splice sites, and allele-specific expression. Additionally, it provides greater coverage and higher quality genetic data than microarrays. Golden Helix and Expression Analysis have built an analysis solution in which RNA-seq bioinformatic processes will be performed in a service-based cloud compute environment. This offering will address the obstacles of sequence data by providing cloud-based and integrated desktop analysis tools that are scalable, affordable, and simplified.
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October 13, 2011
In this ancillary event recording, Dr. Christensen demonstrates next-generation DNA sequencing variant analysis including:
- Starting with sequence variant sites in a family trio and identifying a single gene exhibiting compound heterozygosity of rare damaging variants
- Filtering large-scale NGS data to damaging rare variants
- Using collapsing methods to explore associations between rare variants and phenotypes.
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September 28, 2011
In this presentation, Dr. Bryce Christensen explores tertiary methods - the "sense-making" part - of next-gen sequencing analysis including: starting with 5.2 M sequence variant sites in a family trio and systematically identifying a single gene exhibiting compound heterozygosity of rare damaging variants; practical workflows for filtering large-scale NGS data to damaging rare variants; and using collapsing methods to explore associations between rare variants and phenotypes.
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August 11, 2011
Learn more about Golden Helix’s SNP & Variation Suite (SVS) – a powerful and integrated collection of high-performance analytic tools for managing, analyzing, and visualizing large-scale sequence and array-based data. Applications of SVS include candidate gene analysis, genome-wide association, copy number analysis, and next-generation sequencing. This webinar will focus primarily on rare variant analysis for DNA-sequencing.
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August 3, 2011
The fifth installment of SNP & Variation Suite (SVS) 7 fills out the Sequence Analysis Module premiered in version 7.4, giving you more ways to explore and analyze your NGS data to identify variants that matter. The Genome Browser has also received a lot of attention, including two new features for greater plotting control.
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February 2, 2011
With over 30 new features, the fourth installment of SNP & Variation Suite 7 will empower you to explore your data as never before. Analyze rare variants with a new sequence analysis module. Improve your GWAS and CNV results with state-of-the-art workflows. Dramatically increase your productivity. And gain greater insights with the most advanced genome browser. This is just a taste of what you'll discover on your way to more impactful research.
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October 27, 2010
CHRNA5, encoding the nicotinic alpha5 subunit, is implicated in nicotine addiction, lung cancer, and chronic obstructive pulmonary disease. Expression of this gene is significantly associated with promoter polymorphisms, but the responsible sequence variants remain uncertain. In this webcast, Ryan Smith and Audrey Papp of Ohio State University will discuss their search for cis-regulatory variants, by measuring allele-specific mRNA expression of CHRNA5 in human prefrontal cortex autopsy tissues and scanning the CHRNA5 locus for regulatory variants.
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November 4, 2010
The volume of GWAS data is constantly growing. The content of SNP arrays is increasing, consortium efforts are accelerating, public databases are expanding, and we are at the threshold of the sequencing revolution. The increasing amount of data, and especially the increasing ability to identify rare sequence variants, presents a variety of complex problems for statistical analysis and identification of disease susceptibility loci.
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October 10, 2010
As new sequencing technologies become available, a question has risen: how can we bridge all of the microarray work with next generation sequencing? Dr. Lambert discusses using imputation from the dense genotype calls of the 1,000 Genomes Project to fill that gap and an alternative approach to marry the two.
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August 25, 2010
Incorporating CNVs into genome-wide association studies promises to explain more of the heritability of disease than that accounted for by SNPs alone. This potential goldmine however, has been plagued by myriad of technical and experimental challenges. We examine the most persistent issues in CNV-based GWAS, including: study design, sample quality control, correcting for batch effects and genomics wave, inherited and de novo copy number detection, CNV-based association testing, and rare variant analysis.
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August 24, 2010
In this webcast, Dr. Lambert discusses the tools BEAGLECALL (to re-call genotypes) and BEAGLE (for imputation) including their advantages, limitations, when to utilize each, and comparisons to other methods.
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July 28, 2010
The third installment of SVS 7 extends our dedication to a rich, multi-dimensional analytic approach to genetic research, empowering more people than ever to uncover the genetic cause of disease, drug response, and other conditions.
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December 9, 2009
The following recording is from the Golden Helix ancillary event hosted in conjunction with the 2009 American Society of Human Genetics annual meeting. Dr. Lambert examines best practices, pitfalls, and analytic methods learned from over 30 genome-wide SNP, CNV, and eQTL association studies.
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October 22, 2009
The following recording is from the Golden Helix ancillary event hosted in conjunction with the 2009 American Society of Human Genetics annual meeting. Dr. Lambert examines best practices, pitfalls, and analytic methods learned from over 30 genome-wide SNP, CNV, and eQTL association studies.
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October 7, 2009
Part 2 of the Achieving Genome-Wide Success, Dr. Christophe Lambert examines the effects of poor study design in genetic association studies. Strategies and techniques for good study design will also be discussed.
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October 19, 2009
The following is a recording of Dr. Christophe Lambert's invited talk at the International Genetic Epidemiology Society 2009 Annual Meeting.
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August 5, 2009
Overcoming data quality and copy number detection issues in genome-wide CNV association studies,
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February 18, 2009
Dr. Christophe Lambert examines some of the more persistent challenges he's experienced in SNP and CNV genome-wide association studies, and the novel methods used to overcome them.
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Dr. Christophe Lambert and John Nord of Golden Helix introduce the new features and capabilities released in SNP & Variation Suite v7.
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December 2, 2008
Dr. Christoph Lange presents an overview of his most recent research on Alzheimer's Disease with PBAT.
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October 28, 2008
Dr. Amos describes the approaches he and his team at The University of Texas have taken in identifying genetic factors influencing the risk for lung cancer development.
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September 16, 2008
Includes discussion of Wellcome Trust copy number variation association results.
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July 23, 2008
Discussion of key strategies, methods and workflows used on over twenty whole genome copy number variation (CNV) association studies.
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March 18, 2008
Dr. Christoph Lange presents an overview of his recent work with Dr. Juliana Ionita-Laza on analyzing copy number variations in family-based association studies using PBAT.
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April 15, 2008
Dr. Jessica Lasky Su presents discusses her research and the PBAT methods used to find a whole genome age-dependent association that was replicated in five of eight studies.
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February 7, 2008
An overview of various whole genome methods and workflows for analyzing Affymetrix SNP and copy number data with the SNP & Variation Suite.
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November 14, 2007
A first look at the CNV segmentation and association methods implemented in the Copy Number Analysis Module (CNAM).
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January 24, 2008
Dr. Todd Lencz address the theoretical and statistical underpinnings of whole genome homozygosity association (WGHA) and its potential utility in studies of complex disease.
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May 9, 2007
Dr. Todd Lencz presents the analysis and results of his whole genome association study of Schizophrenia.
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Never Let the Important Become Urgent: A reflection on the genetics supply chain and our need to increase value to the end patient
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