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Next Generation Sequencing: Emerging Clinical Applications and Global Markets
Date:7/25/2013

LOPMENT, 1990–2013 32

TABLE 16 EFFECT OF NEW SEQUENCING TECHNOLOGIES ON COST AND TIME TO

SEQUENCE A SINGLE HUMAN GENOME, 2001 AND 2013 ($) 33

SANGER SEQUENCING TECHNOLOGY 33

TABLE 17 SANGER SEQUENCING SUMMARY 33

TABLE 18 SANGER SEQUENCING IMPROVEMENTS 34

NEXT GENERATION SEQUENCING PLATFORMS 34

TABLE 19 NEXT GENERATION SEQUENCING TECHNOLOGIES 35

TABLE 20 ROCHE NEXT GENERATION SEQUENCING WORKFLOW 35

TABLE 21 ILLUMINA NEXT GENERATION SEQUENCING WORKFLOW 36

TABLE 22 LIFE TECHNOLOGIES NEXT GENERATION SEQUENCING WORKFLOW 37

BENCHTOP SEQUENCERS 38

TABLE 23 BENCHTOP SEQUENCER PLATFORMS , 2010-2012 38

INFORMATICS TECHNOLOGIES 39

TABLE 24 NEXT GENERATION SEQUENCING BIOINFORMATICS WORKFLOW 39

BASE CALLING 40

MAPPING TO A REFERENCE SEQUENCE 40

TABLE 25 SEQUENCE ANNOTATION STEPS 41

VARIANT ANALYSIS 41

FUTURE TECHNOLOGY CHALLENGES 42

TABLE 26 FUTURE CHALLENGES FOR IMPLEMENTING CLINICAL NEXT GENERATION

SEQUENCING 42

TOP TEN CLINICAL NEXT GENERATION SEQUENCING INITIATIVES 43

TABLE 27 TOP 10 CLINICAL NEXT GENERATION SEQUENCING PROJECTS 43

1,000 GENOMES PROJECT 44

ARCHON X PRIZE IN GENOMICS 44

BASIC3 PROJECT 45

CANCER GENOME ATLAS 45

CANCER MOON SHOTS PROGRAM 46

CLARITY CHALLENGE 47

ENCODE PROJECT 47

GENOME IN A BOTTLE 47

MILLION VETERAN PROGRAM 48

NEUROMICS CONSORTIUM 48

CHAPTER 5 CLINICAL NEXT GENERATION SEQUENCING APPLICATIONS 50

INTRODUCTION 50

TABLE 28 CLINICAL NEXT GENERATION SEQUENCING NEAR- TO MID-TERM

APPLICATIONS 50

CANCER APPLICATIONS 51

TABLE 29 CANCER APPLICATIONS 51

MENDELIAN DISORDERS APPLICATIONS 53

TABLE 30 MENDELIAN DISORDERS APPLICATIONS 53

SCREENING APPLICATIONS 54

TABLE 31 SCREENING APPLICATIONS 54

TABLE 32 ETHICAL ISSUES ASSOCIATED WITH PRENATAL AND NEWB
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