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

G INSTRUMENT COST 42

SEQUENCING INSTRUMENT SUMMARY 42

TABLE 18 SEQUENCING INSTRUMENT SUMMARY 43

BIOINFORMATICS TECHNOLOGIES 44

TABLE 19 NGS SEQUENCING BIOINFORMATICS WORKFLOW 44

Base Calling 45

Mapping to a Reference Sequence 46

TABLE 20 SEQUENCE ANNOTATION TYPES 47

Variant Analysis 47

SEQUENCING PRODUCT LIFE CYCLE 48

TABLE 21 LIFE CYCLE OF DNA SEQUENCING TECHNOLOGIES 49

SEQUENCING INSTRUMENT CUMULATIVE INSTALLED BASE 49

FIGURE 7 GLOBAL CUMULATIVE INSTALLED BASE OF DNA

SEQUENCERS, THROUGH JANUARY 2012 50

CHAPTER FIVE: DNA SEQUENCING APPLICATIONS 51

INTRODUCTION 51

FIGURE 8 WHOLE-GENOME SEQUENCING PROJECTS FOR

PROKARYOTES AND EUKARYOTES, APRIL 2010 AND DECEMBER

2011 51

FIGURE 8 (CONTINUED) 52

GENETIC ANALYSIS 53

TABLE 22 GENETIC ANALYSIS FORMATS COMPARISON 54

TABLE 23 SEQUENCING ANALYSIS APPLICATIONS 55

TABLE 23 (CONTINUED) 56

TABLE 24 DE NOVO VERSUS RESEQUENCING REQUIREMENTS 56

DE NOVO WHOLE GENOME SEQUENCING 57

TABLE 25 ESTIMATED NUMBER OF SPECIES ON EARTH AND

PERCENTAGE SEQUENCED, DECEMBER 2011 58

RESEQUENCING 59

Whole-Genome Resequencing 59

FIGURE 9 DISEASE-CAUSING ALLELES AT MAF5 AND MAF1 60

TABLE 26 SINGLE SEQUENCER: WHOLE-GENOME THROUGHPUT

TRENDS, 1975–2011 61

Targeted Resequencing 62

SEQ-BASED METHODS 63

TABLE 27 GENETIC ANALYSIS APPLICATIONS IN WHICH

SEQUENCING COMPETES WITH MICROARRAYS 63

ChIPSeq 64

TABLE 28 COMPARISON OF SEQUENCING WITH MICROARRAYS

FOR CHIP APPLICATIONS 64 '/>"/>

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