24-26 April 2018

San Francisco, USA

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Day One
Wednesday, April 25, 2018

Day Two
Thursday, April 26, 2018


Chair’s Opening Remarks

Utilising RNA-Seq to Forward Drug Discovery and Development

Integrated Analysis of Colorectal Carcinoma by Co-Extraction of RNA, DNA and Protein From FFPE Tumor Samples


• Method development to isolate high quality mRNA, DNA, and proteins from a single
FFPE sample
• Comparison of protein expression and transcript levels, mapping differential expression
onto pathways
• Evaluation of RTP (RNA-to-Protein) conversion factors

RNAseq in Blood for Diagnostic Odyssey Patients


• Exome and genome DNA sequencing have provided diagnosis for 25-30% of patients
with Rare and previously undiagnosed disease
• Germline RNA sequencing is proving to significantly complement DNA sequencing,
providing resolution of a genetic diagnosis in many of these patients that previously had
ambiguous or absent pertinent genetic findings
• We will present findings from a pilot study looking at RNA sequencing of blood to clarify
splice-site variants of uncertain significance, report previously undetected structural
events, and identify other cryptic splicing events that may have disease relevance.

Diagnosis of Fusion Genes in Cancer using Targeted RNA Sequencing


• The utilisation of targeted RNA-Seq methods to diagnose fusion genes present in

Morning Refreshments

Translating Next-Generation Sequencing and Omics Technologies for Drug Discovery and Manufacturing Development


• RNA-Seq and Gene Set Analysis approaches for translation in drug discovery
• Targeted RNA-Seq for transgene QC in protein manufacturing – an application update

A Comprehensive RNA-Seq Computational Pipeline for Investigation of Gene Differential Expression and Alternative Splicing for Target Discovery and Validation

  • Jun Yin Scientist, Computational Biology , Amgen


  • Target oriented drug discovery strategy at Amgen.
  • Implementation of a RNA-Seq computational pipeline to provide comprehensive evaluation on gene expression, alternative splicing and expression/splicing QTL analysis.
  • Integrated genomics resources and network analysis to enable target discovery and elucidate mechanism of action.

Zooming into The Untapped World Of Single Cell Sequencing: Utilising Single-Cell RNA-Seq to Forward Drug Discovery and Development

Leveraging Single Cell RNA-Seq in Target Validation and Disease Understanding


• Single cell RNA sequencing can serve as a rapid and comprehensive method for target
validation and for disease understanding in drug discovery
• For target validation, we have studied gene functions directly in a heterogenous pool
of genome-edited cells via single cell RNA sequencing
• To combat the drastic differences in response between cell types within a patient and
between patients; we have performed single cell RNA sequencing in murine tumor
models to profile the immune composition and to analyze drug responses in individual
cell types

Lunch and Networking

Using Single-Cell RNA Sequencing to Understand Brain Development


• We are using single cell RNA sequencing to atlas the developing brain
• Using network analysis we can identify key developmental trajectories
• These analyses illuminate crucial early distinctions that lay the foundation for later
brain area development

Using Nanopore Technology to Improve Single Cell RNA-Seq


• Recent advances in molecular biology protocols and sequencing technology have
made it possible to analyze the entire transcriptomes of single cells
• Applying this single cell RNAseq technology to B and T cells has the potential to
uncover the true diversity of the adaptive immune system
• We have implemented both library preparation protocols and computational tools
to use Oxford Nanopore Technology sequencing for the analysis of single cells
transcriptomes. This has allowed us to identify high diversity among B cell surface
receptor isoforms that Illumina sequencing failed to resolve.

Chair’s Closing Remarks

Close of the RNA Seq Summit 2018