19 May 2010 (Wednesday)

Applied Biosystems is a proud partner of the HGM 2010. We will show you the latest instrument advances with the SOLiD™ 4 System and 3500 Genetic Analyzer on display in our booth, and we invite you to register for our lunch seminar on Molecular Medicine.

Applied Biosystems is setting industry standards in genomic research, from discovery to routine screening of samples. It's our mission – and yours.

Register now!

Affymetrix invite you to register your interest to join the Affymetrix lunchtime seminar at HUGO HGM 2010. Learn how innovations in microarray technology are enabling next-generation translational disease research and development of clinical tools that may ultimately revolutionize healthcare.

The seminar will include a focus on the next-generation Axiom™ Genotyping Solution and a success story from Skyline Diagnostics, a spin-off company of the Erasmus University Medical Center.

Invited speakers:
Ronald Burggrave (Skyline Diagnostics, Netherlands)
Jay Kaufman (Affymetrix Inc., USA)

Date: Wednesday 19th May, 2010
Time: 11:40 – 13:10 (lunch will be provided)
Venue: Sully 2

Register your interest to attend this lunchtime seminar.

All satellite meeting attendees will be invited to enter a prize draw to WIN a copy of Human Genome Epidemiology (2nd Edition)! You can also visit Affymetrix at booth 21 to discuss your research interests and needs. Affymetrix looks forward to meeting you at HUGO HGM 2010.

20 May 2010 (Thursday)

Roche Diagnostics would like to invite you to attend the seminar:

Date: 20 May 2010 (Thursday)
Time: 11.25 AM - 12.55 PM
Venue: Sully 1, Level 1 of Le Corum (HGM 2010 Venue)

Seminar Title: Next Generation Genomics (Chaired by Marcus Droege, Roche Diagnostics)

Presentation 1: Targeted resequencing of three genomic regions highly associated with nonsyndromic cleft lip and palate

Speaker: Per Hoffmann, PhD, Biomedical Centre, University Hospital Bonn, Germany

Presentation 2: High resolution Copy Number Variation Detection using Roche NimbleGen Microarrays

Speaker: Heike Fiegler, PhD, Head of Tech. Support Roche NimbleGen, UK

Agilent Technologies would like to invite you to attend the seminar:

Date: 20 May 2010 (Thursday)
Time: 11.25 AM - 12.55 PM br> Venue: Sully 2, Level 1 of Le Corum (HGM 2010 Venue)

Presentation 1: High-sensitivity and specificity mutation discovery using Agilent SureSelect genomic enrichment and AB/SOLiD sequencing

Targeted genomic enrichment followed by next-generation sequencing dramatically increases the efficiency of mutation discovery in selected regions of complex genomes. We have optimized conditions for enrichment of single, as well as pre-barcoded multiplexed samples, for both custom Agilent arrays as well as Agilent SureSelect in-solution capture. We demonstrate high on-target percentages, but more importantly, show that AB/SOLiD based sequencing allows for very high sensitivity and specificity of heterozygous mutation retrieval and discovery. False negative rates are very low and the false positive rates were found to be as low as 1 in 8 million bp. Furthermore, we show that up to 20 samples can be multiplexed within a single enrichment experiment without affecting these numbers. We demonstrate the utility of these tools in various genetic applications as well as whole exome sequencing of patient samples.

Speaker: Edwin Cuppen, Hubrecht Institute, Utrecht and Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands (e.cuppen@hubrecht.eu)

Edwin Cuppen area of expertise is in genomics and genetics and his work on natural and induced genetic variation in the laboratory rat lead to a prestigious European Young Investigator Award in 2005. In his current work he combines experimental methods, including next-generation sequencing technology and animal model studies, with bioinformatic approaches to identify functional elements in genomes and to understand the effects of genetic variation under normal and disease conditions. Edwin Cuppen is cofounder of the biotech startup InteRNA Technologies that focuses on miRNA-based diagnostics and therapeutics.

Presentation 2: Targeted capture and resequencing of cancer exomes

We are interested in screening the coding exons and splice junctions of all genes in the human genome for somatically acquired mutations in human cancer. For this study we are using DNA from primary tumours and normal genomic DNA from the same individuals (matched pairs). To screen for small intragenic mutations, we have performed sequence capture using the Agilent SureSelect technology and a custom designed ‘Sanger exome’. This exome design contains all coding exons from the CCDS database plus additional protein coding exons taken from the HAVANA and ENSEMBL browsers. Captured DNA was sequenced using the Illumina GAII platform and variant detection performed using in-house algorithms. To date, we have performed sequence capture on over 25 breast cancer, and 10 renal cancer matched pairs. The performance of this technology, and the effectiveness of our analyses to detect somatic variants in primary tumours will be discussed.

Speaker: Patrick Tarpey, Staff Scientist, Wellcome Trust Sanger Institute
Patrick Tarpey trained as a Clinical Scientist in London and Cambridge prior to moving to the Sanger Centre in 2002 to pursue a research study in Mike Stratton’s Group. This massive endeavor utilized high-throughput capillary sequencing to screen all the genes on the X chromosome in a large cohort of families with X-linked mental retardation (XLMR). This study remains the largest investigation thus far conducted on a Mendelian disease, and resulted in the discovery of 10 new XLMR genes (~10% of all known XLMR genes) in addition to novel genes causing X-linked nystagmus and X-linked epilepsy. More recently I have moved to working on Cancer, and I am currently engaged in utilizing NGS sequencing to search for somatically acquired variants in tumour DNA.

Presentation 3: Integrative analysis and visualization of Genomics data within GeneSpring GX 11

GeneSpring GX addresses the challenges in multi-omics analysis by providing comprehensive analytical and visualization tools for multiple data types within a single data analysis application. Each project in GeneSpring GX can contain one or more experiments of different data types, array platforms, or organisms. Thus, heterogeneous data such as gene expression, miRNA, exon splicing, genomic copy number, and genotyping, can be combined in a logical unit.
After a short introduction of GeneSpring GX tools for Agilent Gene Expression microarray analysis, we will highlight GeneSpring GX mains tools for integrative data analysis, including :

Speaker: Florent Brun, Bioinformatics Product Specialist, Agilent Technologies

21 May 2010 (Friday)

Illumina would like to invite you to attend the following lunch seminar.

Date: 21 May 2010 (Friday)
Time: 12.00 PM - 13.30 PM
Venue: Sully 1, Level 1 of Le Corum (HGM 2010 Venue)

Presentation 1: Current and future outlook of genomic technologies

Recent advancements in genomic technologies are changing the scientific horizon, dramatically accelerating biomedical research. For wide implementation of these technologies, their accuracy, throughput, cost, and workflow need to be addressed. In the past seven years, the cost of full human genome sequencing has been reduced by 4-5 orders of magnitude, and reduction will continue by another 10-fold in the next few years. At that cost level, major biomarker discoveries will fuel adoption of the latest genomic technologies for medicine, agriculture, consumer products, and forensics. In this talk, we will discuss Illumina’s efforts and provide our perspectives on the future of genomics.

Speaker: Dr Mostafa Ronaghi, Senior Vice President and Chief Technology Officer, Illumina Inc.

Presentation 2: Sequencing the genome of the spontaneously hypertensive rat on the Illumina platform

Sequencing costs have fallen by several orders of magnitude in recent years, accompanied by dramatic increases in sequencing capacity and generation. Using the Illumina Genome Analyzer II we generated a comprehensive sequence of the genome of the spontaneously hypertensive rat (SHR), the most widely studied model of hypertension, at low cost with comprehensive genome coverage. We detected over three million high-quality single nucleotide polymorphisms between the SHR and Brown Norway (BN) reference sequence, as well as major coding-sequence variants (stop codons and frameshift variants) in over 600 SHR genes. The near-complete catalogue of genomic differences between the SHR and BN strains provides the starting point for complete elucidation, at the molecular level, of phenotypic differences between these strains.
* The members of the SHR Genome Sequencing Consortium are listed in Atanur et al 2010, Genome Research, in press.

Speaker: Prof Tim Aitman, on behalf of the SHR Genome Sequencing Consortium *, Professor of Clinical and Molecular Genetics, MRC Clinical Sciences Centre, Imperial College London, UK

Presentation 3: Next-gen GWAS: Illumina’s 2010 Omni Roadmap

Building upon the HapMap Project, massive resequencing efforts, such as the 1000 Genomes Project, are delivering a catalogue of human variation at an unprecedented scale. These data are already offering a much richer understanding of the true spectrum of genetic variation across human populations. The 2010 Omni Roadmap leverages proven intelligent tagSNP selection and the ability to type up to 5 million markers per sample, delivering the power needed to fuel new genetic discoveries and enable an expanded understanding of how genetic variation contributes to human health and disease.

Speaker: Dr Jennifer Stone, Senior Product Manager, DNA Analysis Products, Illumina Inc.