The document discusses the advantages and future of next-generation sequencing (NGS). It notes that the NGS market has grown rapidly, with costs and runtimes decreasing significantly over time. Current optimization aims to further lower costs and runtimes while increasing ease-of-use. NGS allows for hypothesis-free and versatile experimental design. A diverse set of applications are discussed, including whole genome sequencing, exome sequencing, and metagenome sequencing. The document predicts that new platforms will offer cheaper, quicker, and longer sequencing. Future applications may include single-cell sequencing and direct detection of base modifications.
5. Rapidly growing market
130% increase in placed systems in one year
4500
4000
3500
3000
2500
2000
1500
1000
500
0
9/1/11 10/1/11 11/1/11 12/1/11 1/1/12 2/1/12 3/1/12 4/1/12 5/1/12 6/1/12 7/1/12 8/1/12
6. Previous optimization path:
Precipitous drop in price/base
Cost per Million Bases Sequenced
Dropped nearly 5 orders of magnitude over past 11 years
$10,000.00
2001
$1,000.00
$100.00
$10.00
$1.00
$0.10 2012
$0.01
12. Current optimization path:
Increase ease of use
Touchscreen operation
Higher level of automation
Cartridge-based reagent system
Connected to cloud-based analysis tools
20. Diverse set of applications
Whole Genome Sequencing
Small Genome Sequencing
Targeted DNA Sequencing
Exome Sequencing
Transcriptome Sequencing
ChIP Sequencing
Metagenome Sequencing
21. Whole Genome Sequencing
Basic research
Cancer genomics
Unknown genetic
cause
Credits: Darryl Leja (NHGRI), Ian Dunham (EBI)
22. Exome Sequencing
Lower cost
Easier analysis
Medical
genomics
Credits: Darryl Leja (NHGRI), Ian Dunham (EBI)
23. Targeted DNA Sequencing
Focused research
Gene sets
Much less
expensive
Much faster
Requires upfront
design
Credits: Darryl Leja (NHGRI), Ian Dunham (EBI)
24. Small Genome Sequencing
Basic research
Pathogen ID
Credit: Rocky Mountain Laboratories, NIAID, NIH Credit: Graham Colm (Wikipedia)
25. Transcriptome Sequencing
Functional
studies
Drug response
Credits: Darryl Leja (NHGRI), Ian Dunham (EBI)
31. New applications
Single cell sequencing
Rare variant detection
Haplotyping
Environmental
sequencing
Direct detection of base
modifications