4.1
Introduction
Since the completion of the human genome project in 2003, amazing progress has been
made in sequencing technologies [1]. The cost per megabase decreased and the number and
diversity of sequenced genomes increased dramatically. Some approaches maximize the
number of bases sequenced in the least amount of time (short-read sequencing), generating
big data enabling a better understanding of complex phenotypes and disease. Alternatively,
other approaches now aim to sequence longer contiguous pieces of DNA (long-read
sequencing), which are essential for resolving structurally complex regions. These and
other strategies are providing researchers and clinicians a variety of tools to investigate
genomes, exomes, transcriptomes, epigenomes in greater depth, leading to an enhanced
understanding of how biological sequence variants lead to phenotypic alterations and thus
the development of various disease patterns [2].
The yearly updates of the Travis Glenn’s Field Guide to Next Generation DNA
Sequencer [3] are a good summary of the state of instrumentation (http://www.
molecularecologist.com/next-gen-fieldguide-2016/).
4.2
Illumina
The Illumina sequencing technologies support a wide range of genetic analysis research
applications, such as:
• Whole-Genome Sequencing: A comprehensive method for analyzing entire genomes.
• Genotyping: Studying variation in genetic sequences.
• Gene Expression and Transcriptome Profiling: Analyzing which genes and transcripts
are expressed in a given sample.
• Epigenetics: Studying heritable changes in gene regulation that occur without a change
in the DNA sequence.
Therefore, Illumina developed the Sequencing by Synthesis (SBS) Technology and
BeadArray Microarray Technology. In this textbook we will focus on SBS.
The NGS massively parallel sequencing technology has revolutionized the biological
sciences. With its ultra-high throughput, scalability, and speed, NGS enables researchers to
perform a wide variety of applications and study biological systems at a level never before
possible.
Today’s complex genomic research questions demand a depth of information beyond
the capacity of traditional DNA sequencing technologies. NGS has filled that gap and
48
M. Eisele and M. Kappelmann-Fenzl
Introduction
Since the completion of the human genome project in 2003, amazing progress has been
made in sequencing technologies [1]. The cost per megabase decreased and the number and
diversity of sequenced genomes increased dramatically. Some approaches maximize the
number of bases sequenced in the least amount of time (short-read sequencing), generating
big data enabling a better understanding of complex phenotypes and disease. Alternatively,
other approaches now aim to sequence longer contiguous pieces of DNA (long-read
sequencing), which are essential for resolving structurally complex regions. These and
other strategies are providing researchers and clinicians a variety of tools to investigate
genomes, exomes, transcriptomes, epigenomes in greater depth, leading to an enhanced
understanding of how biological sequence variants lead to phenotypic alterations and thus
the development of various disease patterns [2].
The yearly updates of the Travis Glenn’s Field Guide to Next Generation DNA
Sequencer [3] are a good summary of the state of instrumentation (http://www.
molecularecologist.com/next-gen-fieldguide-2016/).
4.2
Illumina
The Illumina sequencing technologies support a wide range of genetic analysis research
applications, such as:
• Whole-Genome Sequencing: A comprehensive method for analyzing entire genomes.
• Genotyping: Studying variation in genetic sequences.
• Gene Expression and Transcriptome Profiling: Analyzing which genes and transcripts
are expressed in a given sample.
• Epigenetics: Studying heritable changes in gene regulation that occur without a change
in the DNA sequence.
Therefore, Illumina developed the Sequencing by Synthesis (SBS) Technology and
BeadArray Microarray Technology. In this textbook we will focus on SBS.
The NGS massively parallel sequencing technology has revolutionized the biological
sciences. With its ultra-high throughput, scalability, and speed, NGS enables researchers to
perform a wide variety of applications and study biological systems at a level never before
possible.
Today’s complex genomic research questions demand a depth of information beyond
the capacity of traditional DNA sequencing technologies. NGS has filled that gap and
48
M. Eisele and M. Kappelmann-Fenzl