DNA Testing - The Next Generation

So, What's Coming?

May 2009

So what’s coming? Multiple gigabase and beyond sequencing capabilities. We are going to see increased accuracy of the base call as they improve the chemistry and the imaging. We’re going to have longer reads; hence, whole genomes can be sequenced quickly and inexpensively. We’ll have rare mutation detection ready for prime time so many cancers can be detected by looking for those rare mutations. We currently have 8-plex bar codes but it’s going to go up to 64-plex and beyond. Hence, the cost per sample will continue to drop.

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So, What's Coming?

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Jump to section:

• Introduction
• The Human Genome Project
• ABI 3700 Machine
• Celera Genomics
• Greatest Impact of the Human Genome Project
• Technological Advances
• Process Overview
• One Fragment = One Bead = One Read
• Complete Workflow
• Capability of This Machine
• What's Been Accomplished with the 454?
• Illumina Genome Analyzer
• Genome Analyzer Workflow
• Flow Cell Preparation
• Generate Samples
• Raw Data is Images
• Sequence Construction
• What's Been Accomplished with the Illumina Machine?
• SOLiD System - Overview
• SOLiD System 2.0 - Launch May 2008
• SOLiD System Summary Overview
• Higher Accuracy - New Probe Mix 1,2 Probes (Version 2)
• Higher Accuracy - New Probe Mix 1,2 Probes (Version 2)
• Sequential Rounds of Sequencing 1,2 Probes (Version 2)
• So, What Can You Do with a NextGen Sequencer?
• Whole Genomes
• Detecting Rare Mutations
• Mate-pair Reads
• Hybrid Selection
• Bar Coding
• Clinical Diagnostics
• Next-NextGen?
• Center for Individualized Medicine (CIM)
• Generating a Data Source
• Capabilities Grow Exponentially
• So, What's Coming?
• Building the Infrastructure for NextGen (and Beyond) Sequencing
• Acknowledgments
• Questions?