Infinium BeadChip COGS BeadChip 4 * iselect 3 SNP 25 1 SNP NGS Sequencing by Synthesis SBS HiSeq MiSeq WGS 1 RNA-Seq ChIP-Seq 1 1 * icogs BCAC OCAC PR

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1 Infinium BeadChip COGS BeadChip 4 * iselect 3 SNP 25 1 SNP NGS Sequencing by SynthesisSBSHiSeq MiSeq WGS 1 RNA-Seq ChIP-Seq 1 1 * icogs BCACOCAC PRACTICALBRCA1/2 CIMBA

2 DNA CE DNA DNA SBS1 DNA DNA DNA MiSeq HiSeq TruSeq Nextera Phred Q4 60 Q Q %1 TruSeq NexteraQ30 DNA FFPE DNA FFPE TruSeq PCR650kb MiSeq TruSeq MiSeq TruSeq 48 5% TruSeq BRAF KRASEGFR TruSight 26 DNA30ng 3µg 2

3 WGS

4 3 A A C A C A T G A A C A C A T G A A C A C A T G A A C A C A T G A A G A C A T G A A C A C A T G A A C A C A T T A A C A C A T G A A C A C A T T A A C A C C T G? DNA DNA A A C A C A T G A A C A C A T G A A C A C A T G A A C A C A T G A A G A C A T G A A C A C A T G A A C A C A T T A A C A C A T G A A C A C A T T A A C A C C T G A A C A C A T T A T C A C A T G A A C A C A T T A A C A C A T G A A C A C A T T A A C A C A T G A T C A G A T T A A C A C A T G A T C A G A T T A A C A C A T G A T C A G A T T A A C A C A T G DNA DNA % 100% 2 1% 1% HiSeq2 Illumina Sequence Analysis and Comparison isaac Strelka 2 Strelka isaac HiSeq BaseSpace HiSeq 4

5 HiSeq 2500HiSeq ng 1µg Illumina Genome Network IGN 2 HiSeq 2 IGN HiSeq 2000 HiSeq 2500 TruSeq DNA PCR-Free PCR DNA 1µg 3µg isaac * Strelka isaac Strelka BAM VCF * HiSeq HiSeq 2500 Rapid 1 2 x 100bp 30x1Rapid 5 11 HiSeq 2000 HiSeq x 100bp 30x11.5 IGN IGN 3µg IGN HiSeq 40x 80xIGN RNA-Seq 5

6 1 2% 37Mb62Mb UTRmiRNA 25Mb 3 Nextera Rapid HiSeqMiSeq 1.5 Nextera Rapid 650kb 4-5 TruSight FFPE 26TruSight FFPE QC7000 5% TruSeq 48 MiSeq 96 TruSeq FFPE TruSeq DNA DesignStudio DesignStudio TruSeq MiSeq FFPE 3 6

7 3 Nextera Rapid TruSeq TruSight TruSight Nextera Rapid TruSeq 1 FFPE 37Mb 214,405 QC 48 62Mb UTR mirna Institute of Cancer Research SNP Mb kb 1 DNA 50ng ng FFPE 250ng ng DNA QC 50ng 50ng ng FFPE 250ng HiSeq 2500 HiSeq 2000 MiSeq MiSeq MiSeq HiSeq 2500 HiSeq 2000 MiSeq HiSeq 2500 HiSeq 2000 MiSeq MiSeq HiSeq Analysis Software MiSeq Reporter MiSeq Reporter with Somatic Variant Caller Illumina Amplicon Viewer MiSeq Reporter with Somatic Variant Caller Illumina Amplicon Viewer HiSeq Analysis Software MiSeq Reporter HiSeq Analysis Software MiSeq Reporter MiSeq Reporter with Somatic Variant Caller Illumina Amplicon Viewer 7

8 SNP GWAS GWAS 70400HumanCore HumanOmni BeadChipSNP3, iselect BeadChip icogs iselect HiScan iscanbeadchip SNP TruSeq DNA PCR Nextera Rapid TruSight TruSight 94 SNPGWAS284SNP Nextera Rapid 25Mb TruSeq650kbTruSeq Nextera TruSight MiSeqHiSeq 8

9 Small RNA DNADNA RNA RNA RNA-Seq DNARNA-Seq RNA-Seq RNA-SeqRNA cdnacdna Poly-A mrnatruseq Stranded mrna mrna RNA Ribo-Zero rrna TruSeq Stranded Total RNAFFPE TruSeq Stranded Total RNA RNA RNA TruSeq Targeted RNA Expression MiSeq 50ng RNA p53 csnp 12 1, Small RNA Small RNAmicro RNA mirna 5 mirnamirna RNA-SeqmiRNA Small RNA MiSeqSmall RNA mirna 11 TruSeq Small RNA MiSeq Reporter Small RNA MiSeq48 9

10 DNA DNA ChIP ChIP DNAChIP-Seq DNA TruSeq ChIP TruSeq ChIP ChIP 1 24MiSeq DNA ChIP-Seq DNA DNA Infinium HumanMethylation450 BeadChipRefSeq99% CpG 96% CNV BeadChip 2005 OmniHumanCore HumanCytoSNP-12 BeadChip CNV GenomeStudio 120 iselect BeadChip 13, CNV CNV 10

11 DNA DNA DNA Nextera Mate Pair DNA DNA 2003 BeadChip 2007 HiSeq MiSeq HiScan iscan Chapman M. A., Lawrence M. S., Keats J. J., Cibulskis K., Sougnez C., et al. (2011) Initial genome sequencing and analysis of multiple myeloma. Nature 471: Holbrook J. D., Parker J. S., Gallagher K. T., Halsey W. S., Hughes A. M., et al. (2011) Deep sequencing of gastric carcinoma reveals somatic mutations relevant to personalized medicine. J Transl Med 9: Govindan R., Ding L., Griffith M., Subramanian J., Dees N. D., et al. (2012) Genomic landscape of non-small cell lung cancer in smokers and never-smokers. Cell 150: Meltzer PS (2005) Cancer genomics: Small RNAs with big impacts. Nature 435:

12 Tel (03) Fax (03) Illumina, Inc. All rights reserved. Illumina, illuminadx, BaseSpace, BeadArray, BeadXpress, cbot, CSPro, DASL, DesignStudio, Eco, GAIIx, Genetic Energy, Genome Analyzer, GenomeStudio, GoldenGate, HiScan, HiSeq, Infinium, iselect, MiSeq, Nextera, NuPCR, SeqMonitor, Solexa, TruSeq, TruSight, VeraCode, the pumpkin orange color, the Genetic Energy streaming bases design Illumina, Inc Pub. No J007 28JUN2013

Microsoft PowerPoint - 社外資料_TruSeq Synthetic Long-Read DNA Library Prep.pptx

Microsoft PowerPoint - 社外資料_TruSeq Synthetic Long-Read DNA Library Prep.pptx TruSeq Synthetic Long- Read DNA ライブラリー調製キットイルミナ株式会社マーケティング部 2014 Illumina, Inc. All rights reserved. Illumina, 24sure, IlluminaDx, BaseSpace, BeadArray, BeadArray, BlueFish, BeadXpress, BlueFuse, cbot,