Abstract
Next-generation sequencing (NGS) technologies are advancing in quality and
applications diversity at a breathtaking pace. The market is diversifying
strongly into labs without previous involvement in sequencing.
This report examines:
- Current NGS platforms and how they compare
- Market dynamics and competitive landscape for new entrants
- Next-generation systems in development
- Bioinformatics issues
- Applications of NGS
- User survey results and views of interviewees
The first generation of DNA sequencing can be said to have ended when the
first few human genomes were sequenced and a large number of genetic
variations were detected in a relatively few individuals. Sequencing
throughput is rising dramatically as costs per unit of sequence are falling
equally dramatically. Now it has become possible to sequence a sufficiently
large number of human genomes to explore the extent and medical meaning of
genetic variations in statistically meaningful ways. The race to the "$1,000
genome" is well underway, and the number of entrants is surprisingly large, as
are the ingenuity and inventiveness that have been brought to race.
Next-Generation Sequencing: Solving the Genome provides a detailed overview of
the technologies involved in next-generation sequencing, starting with the
four systems currently on the market and continuing with those now in
development. A number of companies have technologies that promise some
advantage over existing systems, but whether those advantages will be great
enough to merit significant market share remains an open question. We also
provide an overview of bioinformatics issues in next-generation sequencing and
a comparative analysis of currently available platforms.
Applications of next-generation sequencing discussed in this report include
whole-genome sequencing, RNA resequencing, ChIP-seq, disease prediction and
diagnosis, and personal genomics. Next-generation sequencing is starting to
impinge on DNA microarray usage and should continue to do so as costs drop.
Existing next-generation sequencing users are striving to expand the case for
personal genomics and for personalized medicine in general. Next-generation
systems are currently enabling the genome-wide association studies needed to
identify the genome variants central to deeper understanding of the molecular
basis of genetically complex diseases and predicting individual risk of
developing them.
Next-Generation Sequencing: Solving the Genome examines market dynamics and
includes discussions of key issues relating to the competitive position of
various technologies and companies. Next-generation sequencing instruments and
consumables are selling rapidly and contributing nicely to growth rates of the
market leaders. Second-round players must offer significant improvements over
current market entrants in order to merit viable market share. Third-round
technologies, particularly those involving nanopores, remain speculative at
present, but could serve to accelerate market decentralization by virtue of
extremely low costs and high speeds.
An Insight Pharma survey of next-generation sequencing system users generated
a number of interesting observations and opinions, which are discussed.
Transcripts from extended interviews with scientists and managers
knowledgeable in the field are also included.
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