Golden Helix Webcast Events

ALL
CUSTOMER SUCCESS
SNP & VARIATION SUITE
GENOMEBROWSE
RNA PIPELINE

	Knowing Your NGS Downstream: Functional Predictions May 15, 2013 This presentation will review several of the functional prediction tools that are currently available to help researchers determine the functional consequences of genetic alterations. The biological principals underlying functional predictions will be discussed together with an overview of the methodology used by each of the predictive algorithms. Finally, we will discuss how these predictions can be accessed and used within the Golden Helix SNP & Variation Suite (SVS) software. Access Webcast »
	Knowing Your NGS Upstream: Alignment and Variants March 27, 2013 This presentation will compare the performance of the alignment and variant calling tools used by sequencing service providers including Illumina Genome Network, Complete Genomics and The Broad Institute. Using public samples analyzed by each pipeline, we will look at the level of concordance and dive into investigating problematic variants and regions of the genome. Access Webcast »
	Insights: Identification of Candidate Variants using Exome Data in Ophthalmic Genetics March 7, 2013 Technological advances in next generation sequencing provide clinicians and researchers with more effective methods to identify pathogenic gene mutations for heritable diseases. To date, the National Eye Institute Bank lists over 450 genes associated with eye-related disorders. Analytical processing of large datasets generated can be cumbersome for all parties involved and some issues that can cause inefficiencies include learning programming languages and reliance on inconsistent freeware. In this webcast, we demonstrate the ability to maximize Golden Helix tools to find potential pathogenic variants in rare ocular diseases. Access Webcast »
	AGBT 2013: Home Brewed Personalized Genomics - The Quest for Meaningful Analysis Results of a 23andMe Exome Pilot Trio of Myself, Wife, and Son February 22, 2013 Personalized genomics may be moving into a new era with whole-exome and whole-genome sequencing becoming affordable and available to consumers. 23andMe recently piloted a more affordable 80x exome to their existing customers. But it remains to be seen whether this wealth of raw genomic data can be analyzed to provide meaningful results for both healthy and symptomatic individuals. By acquiring 23andMe exomes on his own family, Gabe put himself in the position of a bioinformatically inclined consumer, but non-clinician, to approach this question with his own analysis. His trio consists of a healthy father and son, and a mother with clinically-diagnosed idiopathic rheumatoid arthritis. Access Webcast »
	New Study Identifies High-Risk Variants Associated with Autism Spectrum Disorders January 29, 2013 Since 2002, Lineagen has been building the largest proprietary collection of ASD-related genetic variants and, in 2011, spearheaded a study to increase the clinical yield of the company's genetic diagnostic test, FirstStepDx. To find candidate variants, Linegean selected the Golden Helix services team as well as the Children's Hospital of Philadelphia Center for Applied Genomics to concurrently perform quality control, analyze the data, and interpret the results. In this webcast, Dr. Hakonarson, Dr. Leppert, Dr. Paul, and Dr. Hensel outline the study and methodology approach utilized by Lineagen to achieve a two-fold increase in detection rate of genetic variants in individuals with ASD, and Dr. Christensen shares the analytic processes Golden Helix used in this valuable research. Access Webcast »
	@gabeinformatics: 23andMe Variant Analysis of My Personal Exome December 5, 2012 Join Gabe Rudy as he explores his personal exome provided by the Exome Pilot project of 23andMe. Gabe will be acting as an asymptomatic consumer enthusiast as he applies the transparent techniques of high-impact variant discovery using SNP & Variation Suite (SVS) and GenomeBrowse. As he weeds out false positives and genes with low functional significance, Gabe will face the more daunting challenge of interpreting highly credible loss of function or missense variants and what if any impact that would infer to his disease risk, pharmacogenomic profile, or other annotated genomic traits. Access Webcast »
	SVS 7.7 in Action November 20, 2012 Welcome to the seventh installment of the most powerful collection of high-performance analytic tools for managing, analyzing, and visualizing complex genomic data. SVS 7.7 includes: improved RNA-Seq Analysis Package for mRNA expression profiling, streamlined DNA-Seq workflows, and more. Access Webcast »
	Reproducing a DNA-Seq Discovery: Finding the Causal Variant of a Novel X-Linked Disorder October 24, 2012 In this webcast, we will analyze clinical samples to demonstrate the bioinformatic workflows and visualization techniques used to reproduce the published findings of "Ogden Syndrome" - a novel X-linked fatal genetic disorder. The analysis will be based on X chromosome exon capture and sequencing. Using SVS, we will incorporate known variant catalogs, variant classification, functional prediction, and family-based filtering to find putative causal variants. Using GenomeBrowse to investigate and confirm the analysis results, we will reproduce the single putative variant finding that was confirmed and published as the causal variant of this disorder. Access Webcast »
	GenomeBrowse: A revolutionary visual experience for genomic data September 12, 2012 Golden Helix GenomeBrowseTM is an evolutionary leap in genome browser technology that combines an attractive and informative visual experience with a robust, performance-driven backend. The marriage of these two equally important components results in a product that makes other genome browsers look like 1980s DOS programs. Access Webcast »
	Identification of Candidate Functional Polymorphism Using Trio Family Whole Exome DNA Data August 8, 2012 Personalized genomics, using a trio study design (father, mother, and affected child) allows the identification of candidate novel and rare polymorphisms that have the potential to cause disease. In this presentation, Dr. Kenneth Kaufman will demonstrate the analysis of whole-exome DNA sequencing data from a family trio study. Typically, these studies generate ~100,000 variations per trio. In an advanced workflow, a combination of functional and sequence quality control measurements will be used to filter the DNA sequence data to obtain a small number of candidate de Novo, rare-recessively inherited, and compound heterozygous mutations. Access Webcast »
	Raise Your Expectations of Agrigenomic Genetic Research Software July 26, 2012 Improving the value of crops and livestock in today's world requires an in-depth understanding of genetic variation and how it relates to traits of interest. Such understanding starts with high quality data. But it's made possible through powerful analytics. You paid good money for your data. Now you can take advantage of all it has to offer.In this webcast, Dr. Bryce Christensen will introduce SNP & Variation Suite 7 for agricultural genetic research. SVS 7 delivers world-class analytic tools in a user-friendly, yet extraordinarily powerful interface. No more struggling to coerce command-line software – designed exclusively for human genetics – to work for the plant or animal species you're studying. SVS 7 supports a wide-variety of species enabling you to quickly and easily identify variants related to pest and disease resistance, increased feed efficiency, milk production, and more. Access Webcast »
	Leveraging Annotation Databases and Bioinformatic Filtering to Effectively Analyze NGS Data June 26, 2012 Bioinformatics filtering and rare variant analysis are some of the most relevant approaches to taking advantage of the latest in high-throughput sequencing technologies. The capacity to generate data long ago eclipsed the ability to make sense of that data. In this presentation, Daniel Frost, Golden Helix's Field Application Scientist, will leverage the most prevalent annotation databases and the latest Golden Helix technology to demonstrate a straightforward way to visually and statistically understand your data. Access Webcast »
	Learning From Our GWAS Mistakes: From experimental design to scientific method April 19, 2012 Why is bad or non-existent experimental design so prevalent in our field? In this webcast, Dr. Lambert expounds upon the deep systemic problems that plague our field stepping back to look at them from a broader paradigmatic perspective. He discusses real examples of poorly designed experiments showing what should not be done and concludes with practical advice on how to avoid common and costly mistakes in your own research. Access Webcast »
	Speeding Up the Hunt for Casual Trait Mutations in Cattle and Other Agrigenomic Species December 7, 2011 As a Research Geneticist at the USDA-ARS, Dr. Matthew McClure has published several papers on feed efficiency, beef tenderness, and genetic differentiation between breeds using SNP and GWAS studies. His latest work also incorporates next-generation sequencing technologies with an increased focus on the genetic cause of disease in cattle and other animals, including Weaver Syndrome. In this webcast, Dr. McClure will describe his current research in agrigenomics, the technologies and methods he is using to identify causal mutations for Mendelian and complex traits, and how Golden Helix's SNP & Variation Suite has sped up the pace of discovery. Access Webcast »
	ASHG Ancillary Event: Effectively Deriving Meaning from DNA Resequencing Variant Analysis 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. Access Webcast »
	ASHG Ancillary Event: Optimization of Illumina mRNA-Seq Experimental Results and Conversion to a User Friendly Analysis Solution 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. Access Webcast »
	Sequence Variant Analysis with Golden Helix SNP & Variation Suite 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. Access Webcast »
	Next-Gen Sequencing Workshop: How to Effectively Derive Meaning from DNA Variant Data 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. Access Webcast »
	First Look at SVS 7.5 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. Access Webcast »
	First Look at SVS 7.4 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. Access Webcast »
	ASHG 2010: Improving the Power of Your Study with Advanced Genotype Calling, Imputation, and Next-Generation Sequencing 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. Access Webcast »
	Common Genetic Variants Modulate Nicotinic Alpha5 Receptor mRNA Expression and Risk for Nicotine Dependence 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. Access Webcast »
	IGES 2010: Combining Next-Gen Sequencing and SNP Microarray Data Using Imputation 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. Access Webcast »
	CSCDA 2010: Design and Analysis of GWAS using CNVs 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. Access Webcast »
	CSCDA 2010: Genotype Calling and Imputation with BEAGLE and BEAGLECALL 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. Access Webcast »
	Introducing SVS 7.3 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. Access Webcast »
	Achieving Genome-Wide Success Part III: Quality Assurance and Data Prep for SNP and CNV Studies 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. Access Webcast »
	ASHG 2009 Ancillary Event: Achieving Genome-Wide Success from SNPs to CNVs to eQTL 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. Access Webcast »
	Achieving Genome-Wide Success Part II: Study Design in SNP and CNV Studies 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. Access Webcast »
	IGES 2009: Overcoming Data Quality and Copy Number Detection Issues in Genome-Wide CNV Association Studies October 19, 2009 The following is a recording of Dr. Christophe Lambert's invited talk at the International Genetic Epidemiology Society 2009 Annual Meeting. Access Webcast »
	Joint Statistical Meeting 2009 Talk August 5, 2009 Overcoming data quality and copy number detection issues in genome-wide CNV association studies, Access Webcast »
	Achieving Genome-Wide Success Part I 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. Access Webcast »
	Genome-Wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE December 2, 2008 Dr. Christoph Lange presents an overview of his most recent research on Alzheimer's Disease with PBAT. Access Webcast »
	Introduction to SNP & Variation Suite 7 Dr. Christophe Lambert and John Nord of Golden Helix introduce the new features and capabilities released in SNP & Variation Suite v7. Access Webcast »
	Genome Wide SNP and CNV Association Studies Identify Genetic Factors for Lung Cancer 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. Access Webcast »
	IGES 2008 Talk: Methods and Discoveries Drawn from 20 Whole Genome Copy Number Variation Studies September 16, 2008 Includes discussion of Wellcome Trust copy number variation association results. Access Webcast »
	Emerging Methods in Whole Genome CNV Association July 23, 2008 Discussion of key strategies, methods and workflows used on over twenty whole genome copy number variation (CNV) association studies. Access Webcast »
	On the Replication of Genetic Associations: Timing Can Be Everything 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. Access Webcast »
	On the Analysis of Copy-Number Variations in Genome-Wide Association Studies: A Translation of the Family-Based Association Test 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. Access Webcast »
	SNP, ROH and CNV Association Analysis Overview with Affymetrix SNP Arrays 5.0 and 6.0 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. Access Webcast »
	Using Runs of Homozygosity to Identify Recessive Loci 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. Access Webcast »
	Whole Genome Copy Number Association Analysis with Golden Helix November 14, 2007 A first look at the CNV segmentation and association methods implemented in the Copy Number Analysis Module (CNAM). Access Webcast »
	Whole Genome Association Study of Schizophrenia May 9, 2007 Dr. Todd Lencz presents the analysis and results of his whole genome association study of Schizophrenia. Access Webcast »

	Knowing Your NGS Downstream: Functional Predictions May 15, 2013 This presentation will review several of the functional prediction tools that are currently available to help researchers determine the functional consequences of genetic alterations. The biological principals underlying functional predictions will be discussed together with an overview of the methodology used by each of the predictive algorithms. Finally, we will discuss how these predictions can be accessed and used within the Golden Helix SNP & Variation Suite (SVS) software. Access Webcast »
	SVS 7.7 in Action November 20, 2012 Welcome to the seventh installment of the most powerful collection of high-performance analytic tools for managing, analyzing, and visualizing complex genomic data. SVS 7.7 includes: improved RNA-Seq Analysis Package for mRNA expression profiling, streamlined DNA-Seq workflows, and more. Access Webcast »
	Reproducing a DNA-Seq Discovery: Finding the Causal Variant of a Novel X-Linked Disorder October 24, 2012 In this webcast, we will analyze clinical samples to demonstrate the bioinformatic workflows and visualization techniques used to reproduce the published findings of "Ogden Syndrome" - a novel X-linked fatal genetic disorder. The analysis will be based on X chromosome exon capture and sequencing. Using SVS, we will incorporate known variant catalogs, variant classification, functional prediction, and family-based filtering to find putative causal variants. Using GenomeBrowse to investigate and confirm the analysis results, we will reproduce the single putative variant finding that was confirmed and published as the causal variant of this disorder. Access Webcast »
	Identification of Candidate Functional Polymorphism Using Trio Family Whole Exome DNA Data August 8, 2012 Personalized genomics, using a trio study design (father, mother, and affected child) allows the identification of candidate novel and rare polymorphisms that have the potential to cause disease. In this presentation, Dr. Kenneth Kaufman will demonstrate the analysis of whole-exome DNA sequencing data from a family trio study. Typically, these studies generate ~100,000 variations per trio. In an advanced workflow, a combination of functional and sequence quality control measurements will be used to filter the DNA sequence data to obtain a small number of candidate de Novo, rare-recessively inherited, and compound heterozygous mutations. Access Webcast »
	Raise Your Expectations of Agrigenomic Genetic Research Software July 26, 2012 Improving the value of crops and livestock in today's world requires an in-depth understanding of genetic variation and how it relates to traits of interest. Such understanding starts with high quality data. But it's made possible through powerful analytics. You paid good money for your data. Now you can take advantage of all it has to offer.In this webcast, Dr. Bryce Christensen will introduce SNP & Variation Suite 7 for agricultural genetic research. SVS 7 delivers world-class analytic tools in a user-friendly, yet extraordinarily powerful interface. No more struggling to coerce command-line software – designed exclusively for human genetics – to work for the plant or animal species you're studying. SVS 7 supports a wide-variety of species enabling you to quickly and easily identify variants related to pest and disease resistance, increased feed efficiency, milk production, and more. Access Webcast »
	Leveraging Annotation Databases and Bioinformatic Filtering to Effectively Analyze NGS Data June 26, 2012 Bioinformatics filtering and rare variant analysis are some of the most relevant approaches to taking advantage of the latest in high-throughput sequencing technologies. The capacity to generate data long ago eclipsed the ability to make sense of that data. In this presentation, Daniel Frost, Golden Helix's Field Application Scientist, will leverage the most prevalent annotation databases and the latest Golden Helix technology to demonstrate a straightforward way to visually and statistically understand your data. Access Webcast »
	Learning From Our GWAS Mistakes: From experimental design to scientific method April 19, 2012 Why is bad or non-existent experimental design so prevalent in our field? In this webcast, Dr. Lambert expounds upon the deep systemic problems that plague our field stepping back to look at them from a broader paradigmatic perspective. He discusses real examples of poorly designed experiments showing what should not be done and concludes with practical advice on how to avoid common and costly mistakes in your own research. Access Webcast »
	ASHG Ancillary Event: Effectively Deriving Meaning from DNA Resequencing Variant Analysis 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. Access Webcast »
	Sequence Variant Analysis with Golden Helix SNP & Variation Suite 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. Access Webcast »
	Next-Gen Sequencing Workshop: How to Effectively Derive Meaning from DNA Variant Data 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. Access Webcast »
	First Look at SVS 7.5 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. Access Webcast »
	First Look at SVS 7.4 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. Access Webcast »
	ASHG 2010: Improving the Power of Your Study with Advanced Genotype Calling, Imputation, and Next-Generation Sequencing 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. Access Webcast »
	IGES 2010: Combining Next-Gen Sequencing and SNP Microarray Data Using Imputation 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. Access Webcast »
	CSCDA 2010: Design and Analysis of GWAS using CNVs 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. Access Webcast »
	CSCDA 2010: Genotype Calling and Imputation with BEAGLE and BEAGLECALL 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. Access Webcast »
	Introducing SVS 7.3 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. Access Webcast »
	Achieving Genome-Wide Success Part III: Quality Assurance and Data Prep for SNP and CNV Studies 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. Access Webcast »
	ASHG 2009 Ancillary Event: Achieving Genome-Wide Success from SNPs to CNVs to eQTL 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. Access Webcast »
	Achieving Genome-Wide Success Part II: Study Design in SNP and CNV Studies 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. Access Webcast »
	IGES 2009: Overcoming Data Quality and Copy Number Detection Issues in Genome-Wide CNV Association Studies October 19, 2009 The following is a recording of Dr. Christophe Lambert's invited talk at the International Genetic Epidemiology Society 2009 Annual Meeting. Access Webcast »
	Joint Statistical Meeting 2009 Talk August 5, 2009 Overcoming data quality and copy number detection issues in genome-wide CNV association studies, Access Webcast »
	Achieving Genome-Wide Success Part I 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. Access Webcast »
	Introduction to SNP & Variation Suite 7 Dr. Christophe Lambert and John Nord of Golden Helix introduce the new features and capabilities released in SNP & Variation Suite v7. Access Webcast »
	IGES 2008 Talk: Methods and Discoveries Drawn from 20 Whole Genome Copy Number Variation Studies September 16, 2008 Includes discussion of Wellcome Trust copy number variation association results. Access Webcast »
	Emerging Methods in Whole Genome CNV Association July 23, 2008 Discussion of key strategies, methods and workflows used on over twenty whole genome copy number variation (CNV) association studies. Access Webcast »
	SNP, ROH and CNV Association Analysis Overview with Affymetrix SNP Arrays 5.0 and 6.0 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. Access Webcast »
	Whole Genome Copy Number Association Analysis with Golden Helix November 14, 2007 A first look at the CNV segmentation and association methods implemented in the Copy Number Analysis Module (CNAM). Access Webcast »

	Insights: Identification of Candidate Variants using Exome Data in Ophthalmic Genetics March 7, 2013 Technological advances in next generation sequencing provide clinicians and researchers with more effective methods to identify pathogenic gene mutations for heritable diseases. To date, the National Eye Institute Bank lists over 450 genes associated with eye-related disorders. Analytical processing of large datasets generated can be cumbersome for all parties involved and some issues that can cause inefficiencies include learning programming languages and reliance on inconsistent freeware. In this webcast, we demonstrate the ability to maximize Golden Helix tools to find potential pathogenic variants in rare ocular diseases. Access Webcast »
	New Study Identifies High-Risk Variants Associated with Autism Spectrum Disorders January 29, 2013 Since 2002, Lineagen has been building the largest proprietary collection of ASD-related genetic variants and, in 2011, spearheaded a study to increase the clinical yield of the company's genetic diagnostic test, FirstStepDx. To find candidate variants, Linegean selected the Golden Helix services team as well as the Children's Hospital of Philadelphia Center for Applied Genomics to concurrently perform quality control, analyze the data, and interpret the results. In this webcast, Dr. Hakonarson, Dr. Leppert, Dr. Paul, and Dr. Hensel outline the study and methodology approach utilized by Lineagen to achieve a two-fold increase in detection rate of genetic variants in individuals with ASD, and Dr. Christensen shares the analytic processes Golden Helix used in this valuable research. Access Webcast »
	Identification of Candidate Functional Polymorphism Using Trio Family Whole Exome DNA Data August 8, 2012 Personalized genomics, using a trio study design (father, mother, and affected child) allows the identification of candidate novel and rare polymorphisms that have the potential to cause disease. In this presentation, Dr. Kenneth Kaufman will demonstrate the analysis of whole-exome DNA sequencing data from a family trio study. Typically, these studies generate ~100,000 variations per trio. In an advanced workflow, a combination of functional and sequence quality control measurements will be used to filter the DNA sequence data to obtain a small number of candidate de Novo, rare-recessively inherited, and compound heterozygous mutations. Access Webcast »
	Speeding Up the Hunt for Casual Trait Mutations in Cattle and Other Agrigenomic Species December 7, 2011 As a Research Geneticist at the USDA-ARS, Dr. Matthew McClure has published several papers on feed efficiency, beef tenderness, and genetic differentiation between breeds using SNP and GWAS studies. His latest work also incorporates next-generation sequencing technologies with an increased focus on the genetic cause of disease in cattle and other animals, including Weaver Syndrome. In this webcast, Dr. McClure will describe his current research in agrigenomics, the technologies and methods he is using to identify causal mutations for Mendelian and complex traits, and how Golden Helix's SNP & Variation Suite has sped up the pace of discovery. Access Webcast »
	Common Genetic Variants Modulate Nicotinic Alpha5 Receptor mRNA Expression and Risk for Nicotine Dependence 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. Access Webcast »
	Genome-Wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE December 2, 2008 Dr. Christoph Lange presents an overview of his most recent research on Alzheimer's Disease with PBAT. Access Webcast »
	Genome Wide SNP and CNV Association Studies Identify Genetic Factors for Lung Cancer 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. Access Webcast »
	On the Analysis of Copy-Number Variations in Genome-Wide Association Studies: A Translation of the Family-Based Association Test 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. Access Webcast »
	On the Replication of Genetic Associations: Timing Can Be Everything 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. Access Webcast »
	Using Runs of Homozygosity to Identify Recessive Loci 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. Access Webcast »
	Whole Genome Association Study of Schizophrenia May 9, 2007 Dr. Todd Lencz presents the analysis and results of his whole genome association study of Schizophrenia. Access Webcast »

	Knowing Your NGS Upstream: Alignment and Variants March 27, 2013 This presentation will compare the performance of the alignment and variant calling tools used by sequencing service providers including Illumina Genome Network, Complete Genomics and The Broad Institute. Using public samples analyzed by each pipeline, we will look at the level of concordance and dive into investigating problematic variants and regions of the genome. Access Webcast »
	AGBT 2013: Home Brewed Personalized Genomics - The Quest for Meaningful Analysis Results of a 23andMe Exome Pilot Trio of Myself, Wife, and Son February 22, 2013 Personalized genomics may be moving into a new era with whole-exome and whole-genome sequencing becoming affordable and available to consumers. 23andMe recently piloted a more affordable 80x exome to their existing customers. But it remains to be seen whether this wealth of raw genomic data can be analyzed to provide meaningful results for both healthy and symptomatic individuals. By acquiring 23andMe exomes on his own family, Gabe put himself in the position of a bioinformatically inclined consumer, but non-clinician, to approach this question with his own analysis. His trio consists of a healthy father and son, and a mother with clinically-diagnosed idiopathic rheumatoid arthritis. Access Webcast »
	@gabeinformatics: 23andMe Variant Analysis of My Personal Exome December 5, 2012 Join Gabe Rudy as he explores his personal exome provided by the Exome Pilot project of 23andMe. Gabe will be acting as an asymptomatic consumer enthusiast as he applies the transparent techniques of high-impact variant discovery using SNP & Variation Suite (SVS) and GenomeBrowse. As he weeds out false positives and genes with low functional significance, Gabe will face the more daunting challenge of interpreting highly credible loss of function or missense variants and what if any impact that would infer to his disease risk, pharmacogenomic profile, or other annotated genomic traits. Access Webcast »
	Reproducing a DNA-Seq Discovery: Finding the Causal Variant of a Novel X-Linked Disorder October 24, 2012 In this webcast, we will analyze clinical samples to demonstrate the bioinformatic workflows and visualization techniques used to reproduce the published findings of "Ogden Syndrome" - a novel X-linked fatal genetic disorder. The analysis will be based on X chromosome exon capture and sequencing. Using SVS, we will incorporate known variant catalogs, variant classification, functional prediction, and family-based filtering to find putative causal variants. Using GenomeBrowse to investigate and confirm the analysis results, we will reproduce the single putative variant finding that was confirmed and published as the causal variant of this disorder. Access Webcast »
	GenomeBrowse: A revolutionary visual experience for genomic data September 12, 2012 Golden Helix GenomeBrowseTM is an evolutionary leap in genome browser technology that combines an attractive and informative visual experience with a robust, performance-driven backend. The marriage of these two equally important components results in a product that makes other genome browsers look like 1980s DOS programs. Access Webcast »
	Identification of Candidate Functional Polymorphism Using Trio Family Whole Exome DNA Data August 8, 2012 Personalized genomics, using a trio study design (father, mother, and affected child) allows the identification of candidate novel and rare polymorphisms that have the potential to cause disease. In this presentation, Dr. Kenneth Kaufman will demonstrate the analysis of whole-exome DNA sequencing data from a family trio study. Typically, these studies generate ~100,000 variations per trio. In an advanced workflow, a combination of functional and sequence quality control measurements will be used to filter the DNA sequence data to obtain a small number of candidate de Novo, rare-recessively inherited, and compound heterozygous mutations. In addition, Dr. Kaufman will demonstrate how to use Golden Helix's latest tool, GenomeBrowse and sequencing BAM files to decrease the number of false positive candidate polymorphisms. Access Webcast »

ASHG Ancillary Event: Optimization of Illumina mRNA-Seq Experimental Results and Conversion to a User Friendly Analysis Solution

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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