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APR 2014 03
Transform the future of oncology with genomics
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Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection, tumor profiling, and gene expression studies. Our expanding oncology portfolio includes new tools that aid the discovery, identification, and analysis of cancer variants.

Join us for a review of recent advances in Illumina sample-to-data solutions, from whole-genome, RNA, and targeted sequencing, to epigenetic analysis, germ line risk assessment, and cytogenetics. Learn how these transformative solutions are now delivering relevant oncological information into the hands of translational and clinical researchers. Hear about groundbreaking developments in cancer genomics from around the world, including:

  • Whole-genome and targeted sequencing of DNA and RNA
  • Epigenetic analysis, germ line risk investigations and cytogenetics
  • Single cell sequencing to understand tumor heterogeneity
  • Deep sequencing of circulating nucleic acids as non-invasive bio markers


Cancer Genomics
MAR 2014 26
The Human Virome in Health and Disease
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The human virome—the collection of all the viruses within the human body—includes chronic and transient infections, endogenous retroviruses, and large bacteriophage populations that prey on human-associated bacteria. Recent studies have revealed that the human virome contains a high degree of variation. After sequencing and analyzing virome samples from healthy and diseased individuals on an Illumina HiSeq® System, researchers found that most viral contigs are novel sequences and viral communities vary greatly between individuals.

These findings provide insight into the variation between viromes, indicating that factors such as diverse viral predators, rapid viral evolution within the human body, and disease can affect the virome community. This webinar discusses the viral communities inhabiting the human body and how the virome affects human health.

Microbiology & infectious disease
MAR 2014 11
Karyomapping—A Rapid PGD Solution for Single-Gene Disorders
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Preimplantation Genetic Diagnosis (PGD) can be used where there is a risk of severe genetic disorders being inherited from parents, whether the couple has a family history of a genetic disorder or has a child affected by a genetic disease. Currently, PGD is often performed by examining the inheritance of short tandem repeats (STRs) adjacent to specific disease loci. Unfortunately, this method is complex and must be developed individually for each genetic disorder and each couple, making it time-consuming and limiting availability.

Karyomapping offers a faster, more accurate, and robust alternative to STR analysis for PGD. Using genome-wide linkage-based analysis, karyomapping detects single-gene disorders from as little as a single embryonic cell. Embryos that do not carry the defective gene can be identified and selected for transfer and subsequent implantation.

Join Professor Alan Handyside, one of the pioneers of karyomapping, and Dr. Alan Thornhill as they introduce the Illumina karyomapping solution, including the Infinium HumanKaryomap-12 BeadChip. This karyomapping assay targets ~300,000 of the most informative genomic markers resulting in comprehensive genome-wide analysis at the single-cell level.

Reproductive & Genetic Health
MAR 2014 03
16S rRNA sequencing: From DNA extraction to entire microbial community analysis
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Working closely with the microbial community, we’ve developed a powerful next generation sequencing solution that enables researchers to analyze an entire microbial community within a sample, including species that may not be identified otherwise. This culture-free method eliminates the time and expense involved in growing pure cultures and individually sequencing each type of bacteria.

Discover how you can leverage these next generation sequencing solutions to initiate and accelerate your own 16S rRNA studies.

Topics include:

  • An overview of the streamlined 16S rRNA metagenomics sequencing protocol
  • Discussion of analysis options with MSR and BaseSpace
  • Live demonstration of the BaseSpace 16S app
  • Case study conversation
    • A comparison of 16s metagenomic sequencing on MiSeq and 454
    • Desert tortoise conservation – disease surveillance and diagnosis
Microbiology & infectious disease
FEB 2014 18
NextSeq 500 Delivers Power and Flexibility for Cancer and Genetic Disease Studies
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GS-based variant detection is central to cancer and genetic disease studies, with the promise of enabling more accurate prognoses and more effective therapeutics. Using whole-genome, whole-exome, and RNA sequencing, large international projects such as The Cancer Genome Atlas (TCGA) and others have contributed greatly to the catalog of somatic driver mutations that underlie tumorigenesis and progression. The methods that powered these research strategies are now accessible to every lab with the NextSeq 500 system. Combining the power and accuracy of Illumina high-throughput sequencing with the speed, simplicity, and affordability of a desktop system, NextSeq 500 delivers multiple sequencing applications on one platform. The NextSeq 500 System is capable of sequencing a whole human genome at 30× in one run, and delivers exceptional workflow flexibility for other sequencing applications, including exome and RNA sequencing. Simple, cartridge-based reagents and configurable run modes allow researchers to quickly tailor experiments ranging from gene expression to complex whole-transcriptome profiling, on a single NGS system. Workflow improvements and expansions, including sample prep automation, run monitoring, data analysis, and storage using cloud or onsite options, will continue to improve the utility of NGS for the research needs of today and tomorrow.

Human Genetics & Genetic Disease
FEB 2014 04
Somatic Variant Discovery and Translation in Cancer Genomics – Next Generation Sequencing Solutions
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Next-generation sequencing (NGS)-based detection of somatic variants in tumor samples is a powerful tool to uncover the molecular drivers associated with different cancer types. This technology holds promise to enable more accurate prognoses and more effective therapy decisions – the foundation necessary to achieving precision medicine. Using whole-genome, whole-exome, and RNA-Seq, large international projects, such as The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC), have contributed greatly to the catalog of somatic driver mutations that underlie tumorigenesis and progression in many common and rare cancers. These discoveries provide basic research and drug development communities direction to focus on the targets of greatest impact in the war on cancer. In the clinical research and oncology communities, similar sequencing strategies have emerged as a powerful weapon to further understand variation in the clinical course of various cancer types. 

These strategies are now accessible to every lab with Illumina’s new NextSeq 500 system. Using a powerful combination of sample preparation, sequencing, and informatics methods, Illumina now enables researchers to perform the same groundbreaking cancer analysis pioneered by groups such as TCGA and ICGC in their labs. This experimental design is more accessible than ever before. Join us to learn how researchers are using this comprehensive approach to continue to discover the biology of cancer and translate discoveries faster than ever before.

Cancer Genomics
NOV 2013 26
Creating, Expanding, and Streamlining Your Next-Generation Sequencing Portfolio using the TruSight™ One Sequencing Panel and VariantStudio
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Building a comprehensive sequencing portfolio with individual panels for each condition of interest presents numerous developmental and managerial complications. To help you overcome this challenge and streamline your sequencing portfolio while maximizing assay offerings, Illumina offers the TruSight One Sequencing Panel. TruSight One is a single, large sequencing panel targeting more than 4,800 genes and covering 12 Mb of genomic content. Combining TruSight One with the VariantStudio data analysis tool creates the simplest sample-to-report workflow that can replace dozens, if not hundreds, of small, individual sequencing panels and assays. The unmatched coverage uniformity of TruSight One facilitates high levels of multiplexing, enabling sequencing of trios on a single MiSeq flow cell and 36 samples on a single HiSeq flow cell.

Human Genetics & Genetic Disease:Sequencing:Software
OCT 2013 29
GenomeStudio Software for Automated Polyploid Clustering
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Many plant species are polyploid organisms with multiple homologous chromosomes, which often complicates genetic analysis. Illumina has developed the GenomeStudio Polyploid Clustering Module, which features powerful DBSCAN and OPTICS algorithms, to help researchers analyze genotyping data from polyploid genomes.

This webinar, presented by Cindy Lawley, Ph.D., Global Agriculture Consortia Program Manager at Illumina, demonstrates how to use the Polyploid Clustering Module. Topics include: starting a project, optimizing cluster detection sensitivity, manually adjusting clusters, importing cluster positions, and exporting cluster data. The webinar also covers analysis of the wheat genome to demonstrate how to use the Polyploid Clustering Module to study a complex genome.

Agriculture Genomics
OCT 2013 24
Molecular Pathology Reimbursement: Outcome of the 2013 Medicare Gapfilling Process
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This webinar summarizes the outcome of the recently concluded Medicare gapfilling process for 114 new molecular pathology (MoPath) codes that were implemented in 2013. The presentation will address the final 2013 regional rates for these codes, as well as the implications for national payment rates in 2014. We will then look ahead to additional upcoming changes in the molecular diagnostic reimbursement landscape and the potential impact on clinical laboratories.

OCT 2013 11
Personal genome sequencing and the future of healthcare, My experience at Understand Your Genome
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Illumina coined a new verb – “get genomed” – in support of Understand Your Genome, an event where participants get “genome-sequenced” and “genome-educated.” During this webinar, I will discuss my personal experience at Understand Your Genome, where I had my genome sequenced, received the raw data on an iPad, and viewed reports in the MyGenome App. Join me in a discussion of the role of whole genome sequencing in modern medicine and its impact on the future of health care.

Human Genetics & Genetic Disease
SEP 2013 10
Deep sequencing of HIV: Detection of Drug Resistance Variants and Tracking of Viral Haplotypes
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HIV drug resistance testing has become an integral part of HIV clinical care. Commercially available genotypic assays identify drug resistance mutations through population sequencing of regions of the HIV protease and reverse transcriptase genes. However, these assays are insensitive to drug resistance variants when present at levels comprising less than 10 to 20 percent of the virus population.

By contrast, ultradeep sequencing allows the identification of HIV nucleotide variants and variant haplotype signatures present at <1% in patient samples. Tracking of viral haplotypes, which requires long-sequence read lengths, is particularly useful in determining whether sequentially expressed dual infections are the consequence of viral evolution, co-infection, or superinfection.

This webinar presents insight into the characterization of HIV by next-generation sequencing, including data obtained from a comparison of HIV drug-resistance variant detection in a 465-base region of HIV reverse transcriptase by the Illumina MiSeq and Roche 454 GS FLX+ platforms.

Microbiology & infectious disease
AUG 2013 15
Implementing Informatics Solutions to Support Genomics
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The Human Molecular Genetics Center at the Medical College of Wisconsin has implemented an efficient informatics solution to support genomics sequencing runs using Illumina systems. Jaime Wendt Andrae will discuss how they implemented the beta-version of Clarity Run Manager to enable sample tracking and automation of Illumina sequencing runs. Aubree Hoover will briefly introduce this new version of Clarity Run Manager, a free solution for managing projects and samples, and easily creating sample sheets for Illumina instruments.

AUG 2013 07
Ground-breaking study, identifying a causal gene mutation for two dissimilar neurological diseases
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Dr. Bryan Traynor and his team participated in a ground-breaking international study, identifying a causal gene mutation responsible for two dissimilar neurological diseases, ALS and FTD. As members of a worldwide consortium, his research team used next-generation sequencing to identify a large hexanucleotide repeat that disrupts the C9ORF72 gene located on chromosome 9. The mutation accounts for approximately 40% of all familial cases of ALS and FTD in European and North American populations, and also ~1% of Alzheimer&rsquo;s disease cases. ALS, also known as Lou Gehrig&rsquo;s disease, is a fatal neurodegenerative disorder that leads to rapidly progressive paralysis and respiratory failure. Frontotemporal dementia (FTD) is the most common form of dementia in the population under the age of 65.<br /><br />This landmark discovery has impacted how these neurological disorders are diagnosed, investigated and perceived. It also provides a distinct therapeutic target for gene therapy efforts aimed at ameliorating these diseases.

Human Genetics & Genetic Disease
MAY 2013 30
Sequencing analysis of tissue samples: Fresh frozen vs. FFPE
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We'll discuss:

  • Analyzing small sample sizes of FFPE material
  • Obtaining FFPE results that are consistent with fresh-frozen results
  • Specially developed tools for comparing results
Cancer Genomics
NOV 2012 28
Outbreak - The Sequel: Using Next-gen Sequencing to Unravel Outbreaks of Infectious Disease
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When an infectious disease outbreak occurs, public health officials attempt to identify where it started and how it spread so that they can initiate appropriate control and prevention strategies. Using a combination of field epidemiology (interviewing cases and controls) and molecular epidemiology (genotyping of bacterial or viral pathogens), they attempt to establish links between cases and develop a putative reconstruction of the outbreak. Unfortunately, the low resolution of molecular epidemiology techniques currently available to most reference microbiology laboratories cannot provide detailed information on the underlying transmission dynamics within an outbreak. However, next-generation sequencing offers exciting new possibilities for tracking disease outbreaks with high resolution. Over the course of an outbreak, a small amount of genetic variation accrues in a pathogen's genome as a result of mutations. By tracking the presence or absence of these mutations in all pathogen genomes from a given outbreak, it is possible to identify where particular variants arose and trace person-to-person transmission events. This webinar will provide an introduction to this emerging field of genomic epidemiology, highlighting the application of this approach to reconstruct outbreaks of tuberculosis in British Columbia, Canada.

OCT 2012 02
Evolving tools for understanding the functional genome: RNA-Seq and the ENCODE Project
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RNA-Seq is a powerful tool for studying various aspects of RNA biology, including expression levels, alternative splicing, RNA editing, and gene discovery. Though RNA-Seq has long been in use, robust and easy methods for generating strand-specific libraries and libraries from total RNA samples have not been commercially available. The new Illumina Tru-Seq Strand-specific Total RNA-Seq kits facilitate the generation of high quality libraries via a simple, rapid, and familiar workflow. I will present modENCODE data generated using these new kits and compare the results to those generated from libraries prepared using previous Illumina RNA-Seq kits and the same RNA samples. Specifically, I will discuss the degree of strandedness, evenness of coverage, and discovery of transcribed regions not identified using poly(A)-selected RNA-Seq libraries.

APR 2012 26
How next-gen sequencing is revolutionizing cancer diagnoses
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Dr. Andrew Fellowes PhD FHGSA FFSc(RCPA)
Scientist in Charge, Molecular Pathology Diagnostic Development
Molecular Pathology Laboratory
Peter MacCallum Cancer Centre

The Peter MacCallum Cancer Centre in Melbourne is Australia’s only public hospital solely dedicated to cancer and home to the country’s largest cancer research group. In the Molecular Pathology Laboratory, Dr. Andrew Fellowes and his team are using the MiSeq system and TruSeq Amplicon - Cancer Panel to profile tumor samples for a wider range of mutations than is possible with traditional technologies.

Join us for a webinar with Dr. Fellowes as he discusses how his team is using the MiSeq system to:

  • Transition cancer diagnosis assays to next-generation technologies
  • Identify new mutations using ultra-deep amplicon sequencing
  • Perform comprehensive tumor profiling on 10,000 tumors over the next three years
Cancer Genomics:Sequencing
FEB 2012 21
Market Perspectives on Genomics: Payors and Hospitals
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Trisha Brown, MS, CGC, Vice President, Clinical Affairs
DNA Direct by Medco

Whole-genome sequencing presents both tremendous opportunities and challenges for health care. While clinical adoption is still limited by our knowledge of disease biology and complex genome-environmental interactions, situations are emerging where whole-genome sequencing and other broad-based genomics tests provide crucial information for patient care decisions.

In this webinar, you’ll learn about:

  • Payors’ perspectives, including employers and hospitals, regarding the emerging genomics market and the evolution of next-generation sequencing
  • Reimbursement and “readiness” with an emphasis on issues arising for pharmacogenetics
Translational Genomics
NOV 2011 17
TruSeq Custom Amplicon: Learn How to Customize Content with DesignStudio
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Layla Katiraee, Ph.D.
Senior Scientist, New Product Transfer
Jonathan Bell
Product Manager, DNA Sequencing Applications

TruSeq Custom Amplicon (TSCA), the newest addition to the Illumina portfolio of fully customizable targeted resequencing solutions, is the fastest and easiest multiplexed amplicon assay that has been optimized for the MiSeq system. With the ability to generate up to 384 amplicons per sample, and indexes to support up to 96 samples per MiSeq run, TSCA provides an unprecedented level of multiplexing. Entire projects can now be accomplished in days, leveraging the long paired-end-read capability, speed, and high data quality of the MiSeq system.

TruSeq Custom Amplicon offers convenient probe design and ordering using DesignStudio, an easy-to-use online tool that provides dynamic feedback to optimize designs to suit any study need.

Please join us to learn how to navigate DesignStudio, design content, and order amplicon panels in just a few steps.

In addition, the following topics will be covered:

  • TruSeq Custom Amplicon workflow and performance metrics
  • DesignStudio: Watch a live demonstration
  • Best practices for customizing content

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