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DNA Sequencing: Emerging Technologies and Applications
Date:5/30/2012

GENOMIC VARIATION 18

TABLE 6 TYPES OF HUMAN GENOME VARIATIONS 18

FIGURE 2 DNA, MRNA, AND GENETIC VARIATION 19

DNA SEQUENCING ANALYSIS 20

TABLE 7 DNA SEQUENCING METHODS 21

HISTORY OF DNA SEQUENCING 21

TABLE 8 DNA SEQUENCING HISTORICAL TIMELINE 21

TABLE 8 (CONTINUED) 22

HISTORY OF DNA SEQUENCING (CONTINUED) 23

HISTORY OF DNA SEQUENCING (CONTINUED) 24

HISTORY OF DNA SEQUENCING (CONTINUED) 25

HISTORY OF DNA SEQUENCING (CONTINUED) 26

FIGURE 3 SEQUENCING COST TREND, BASE PAIRS SEQUENCED

PER DOLLAR 27

FIGURE 4 SEQUENCING INSTRUMENT THROUGHPUT TREND,

BASE PAIRS PER DAY 28

FIGURE 5 HUMAN GENOME SEQUENCING COST TREND 29

FIGURE 6 $1,000 GENOME PRODUCT SPACE 30

DNA SEQUENCING WORKFLOW 31

TABLE 9 DNA SEQUENCING WORKFLOW 31

TARGETING TECHNOLOGIES 32

TABLE 10 CHEMICAL TARGETING TECHNOLOGIES 33

DNA SEQUENCING TECHNOLOGIES 34

TABLE 11 DNA SEQUENCING TECHNOLOGIES 34

NEXT-GENERATION SEQUENCING TECHNOLOGIES 35

TABLE 12 NEXT-GENERATION SEQUENCING TECHNOLOGIES 35

Reversible Termination (Illumina Genome Analyzer and

HiSeq) 35

Pyrosequencing (Roche-454) 36

Sequencing by Ligation (Life Technologies) 37

EMERGING SEQUENCING TECHNOLOGIES 37

TABLE 13 EMERGING SEQUENCING TECHNOLOGIES 38

BENCHTOP SEQUENCERS 39

TABLE 14 BENCHTOP SEQUENCING TECHNOLOGIES 39

SEQUENCING INSTRUMENT PERFORMANCE METRICS 40

TABLE 15 SEQUENCING PLATFORM THROUGHPUT

PERFORMANCE 40

TABLE 16 SEQUENCING PLATFORM ACCURACY PERFORMANCE 41

TABLE 17 SEQUENCIN
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