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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Joint Statistical Meeting 2009 Talk

August 5, 2009
Overcoming data quality and copy number detection issues in genome-wide CNV association studies,

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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.

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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.

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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.

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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.

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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.

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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).

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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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