08:00 | Registration |
| 3rd Generation Sequencing Technologies |
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09:00 | | Keynote Presentation Sequencing at The Wellcome Trust Sanger Institute in the Year 2013 Michael Quail, Team Leader, Wellcome Trust Sanger Institute, United Kingdom
I will give an overview of the organisation of our Institute, our sequencing infrastructure and what we are using it for. I will then go on to describe applications we have developed and improvements we have made to sequencing protocols. |
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10:00 | Coffee and Networking in Exhibiton Hall |
10:45 | High Sensitivity Detection of Colorectal Cancer Mutations using Third Generation Single Molecule Sequencing Giancarlo Russo, Bioinformatics and Biostatistics; Next Generation Sequencing Expert, ETH Zurich / University of Zurich, United Kingdom
The advent of the PacBio RS, whose random error model and circular consensus algorithm allow for base calls quality which are orders of magnitude better than current NGS platform, opens up new frontiers in the detection of very low frequency mutations. This talk will focus on a recent application to colorectal cancer. |
| Applications of Sequencing Data |
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11:30 | Reference Human Epigenomes Martin Hirst, Head, BC Cancer Agency, Canada
As part of the NIH Reference Epigenome Project (http://www.roadmapepigenomics.org) and Canadian Epigenetics and Environment Health Research Consortium (http://www.cihr-irsc.gc.ca/e/43734.html) our group is engaged in the generation of comprehensive reference epigenomes from primary human tissues and cells. |
12:15 | Technology Spotlight: Automating the Tricky Part of NGS – Size Selection and More Stefan Overkamp, Product Specialist/Product Manager, Beckman Coulter
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12:30 | Lunch and Networking in Exhibition Hall |
13:30 | Poster Viewing Session |
14:15 | Deep Sequencing, microRNA/Other Novel Small Non-coding RNA, and Renal Cell Carcinoma Metastasis Huiqing Wu, Assistant Professor, City of Hope National Medical Center and Beckman Research Institute, United States of America
Whole genome small RNA deep sequencing studies using formalin-fixed paraffin-embedded clinical renal cell carcinoma samples. Discovery and characterization of novel small non-coding small RNAs derived from tRNAs, rRNAs, snoRNAs and other RNAs/RNA fragments by deep sequencing studies of Ago2-coprecipitated small RNAs and clinical renal cell carcinoma tissue cohort. |
15:00 | The Genetics of Orphan Diseases Gijs van Haaften, Group Leader, University Medical Center Utrecht, Netherlands
In this presentation I will present different approaches that I apply in my lab to identify the genetic basis of several orphan diseases, for example we recently identified autosomal dominant mutations in a K-ATP channel to cause Cantu syndrome. |
15:45 | Coffee and Networking in Exhibiton Hall |
16:30 | The Epigenetics of Pluripotency in Mouse Ground State Embryonic Stem Cells (ESCs) Hendrik Marks, Post Doctoral Researcher, Nijmegen Centre for Molecular Life Sciences/Radboud University, Netherlands
ESCs have the potential to differentiate into all somatic cell lineages, referred to as pluripotency, and can propagate indefinitely. To understand the mechanisms acting in these unique cells, I use an integrative approach of NGS applications (ChIP-Seq, WGBS, (nc)RNA-Seq, DNAseI-Seq), which will be presented at this meeting. |
| Data Analysis and Bioinformatics |
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17:15 | Automating Microbial Annotation and Analysis Lisa Crossman, Project Leader, University of East Anglia, United Kingdom
Microbial genome processing pipelines range from the fastest and most minimal to the longer and more in-depth. Processing steps at TGAC, Norwich, UK follow different options for particular project types dependent on biological variation. |
18:00 | MutAid- A Comprehensive Software Solution for Efficient Molecular Genetic Analyses of NGS Data Andreas Weinhaeusel, Senior Scientist, Austrian Institute of Technology GmbH, Austria
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18:45 | End of Day One |