DNA DNA DNA DNA 0.1 1µg 2 2 PCR

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1 2010 Illumina, Inc. All rights reserved. Illumina, illuminadx, Solexa, Making Sense Out of Life, Oligator, Sentrix, GoldenGate, GoldenGate Indexing, DASL, BeadArray, Array of Arrays, Infinium, BeadXpress, VeraCode, IntelliHyb, iselect, CSPro, GenomeStudio, Genetic Energy, HiSeq, and HiScan are registered trademarks or trademarks of Illumina, Inc. All other brands and names contained herein are the property of their respective owners.

2 DNA DNA DNA DNA 0.1 1µg 2 2 PCR

3 1 A G C G C A T C T A G A C C G T C T T A 3 5 C G A T G C C C G T A A C G T T G T Cycle 1!! 1!!! Cycle 2! Cycle 3, 4, 5..! PPP 3 O HN O O N block cleavage site fluor 3 5

4 4 20um 100um 4

5 T G C T A C G A T T T T T T T T G T 1 5

6 6 ( )

7 ! DNA 100bp! DNA 100bp! DNA bp 2-5kb bp 2 2-5kb 7

8 ! DNA! DNA #1 2 nd cut #2 FLOWCELL FLOWCELL FLOWCELL 8

9 !! 1! (1 ) 1 24 DNA 9

10 Index Read Sequence Primer Sequence Primer DNA DNA insert Index Index Sequence Primer 10

11 2010 Illumina, Inc. All rights reserved. Illumina, illuminadx, Solexa, Making Sense Out of Life, Oligator, Sentrix, GoldenGate, GoldenGate Indexing, DASL, BeadArray, Array of Arrays, Infinium, BeadXpress, VeraCode, IntelliHyb, iselect, CSPro, GenomeStudio, Genetic Energy, HiSeq, and HiScan are registered trademarks or trademarks of Illumina, Inc. All other brands and names contained herein are the property of their respective owners.

12 SBS Sequencing publications Qtr1 Qtr2 Qtr3 Qtr4 Qtr1 Qtr2 Qtr3 Qtr4 Qtr1 Qtr2 Qtr3 Qtr4 Qtr1 Qtr2 Qtr3 Qtr4 Qtr1 Qtr2 Qtr3 Qtr4 Qtr1 Qtr

13 Sum of Short Read Archive entry on NCBI, EBI and DDBJ HiSeq

14 90% NCBI Sroht Read Archive NCBI, EBI, DDBJ Run * 100,837 ILMN 93,411 (92.6%) LT 4.2 % Other 3.2 % ILMN 92.6 % * ILMN txid9606[organism:exp] HiSeq, Genome Analyzer, MiSeq LT : txid9606[organism:exp] SOLiD, 5500, PGM, Proton 14

15 15 HiSeq

16 HiSeq Gb Fast Run

17 HiSeq ! 2 High Output Fast Run! Fast Run 1 100bp x2 cbot MiSeq 150bp x2 Fast Run HiSeq 2500 * Fast Run 2 x x x 150 (Gb) ~600 ~ ~ ~11 ~27 ~39 % > Q30 > 80 > 80 > 75 > 90% > 90% Ø 90% / cbot *Anticipated performance at launch for new HiSeq 2500 systems. Official specifications will be set at launch. 17

18 新生児集中治療患者の迅速なシーケンスとアノテーション 5ヶ月の乳児発達遅延発作など 18 サンプル調製後 HiSeq 2500でシーケンス解析銅代謝に関連する新規の変異を同定 Courtesy of Stephen Kingsmore, Children s Mercy Hospital, Kansas City Menkes 症の診断を確認

! 5! Rapid DNA 50 Unrelated 3.54M 16,180 449 24 5 1 Unrelated Unrelated!! Menkes Saunders, et al.

19 ! 5! Rapid DNA 50 Unrelated 3.54M 16, Unrelated Unrelated!! Menkes Saunders, et al. Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units, Sci. Trans. Med.,

20 20

21 BlueGnome (2012 ) 21

22 22

23 (Sequenom ) 23

24 24

25 Verinata This agreement with Verinata demonstrates Illumina s commitment to developing innovative diagnostic solutions and providing our partners with the most advanced technologies for improved patient care, said Jay Flatley, President and CEO of Illumina. Building on the recent acquisition ofbluegnome Ltd. and our expertise in next-generation sequencing, this announcement further establishes Illumina as a leader in reproductive health. Available through a physician, the verifi test analyzes cell-free fetal DNA naturally found in a pregnant woman s blood to look for missing or extra copies of chromosomes (referred to as aneuploidies). Specifically, the test detects Down syndrome (trisomy 21 or T21), Edwards syndrome (trisomy 18 or T18) and Patau syndrome (trisomy 13 or T13). It is the first noninvasive prenatal test that offers the option to include evaluation of sex chromosome aneuploidies, such as Turner syndrome (Monosomy X), Triple X (XXX), Klinefelter syndrome (XXY) and Jacobs syndrome (XYY) the most common fetal sex chromosome abnormalities. c=121127&p=irolnewsarticle&id= &highlight= 25

26 26 MiSeq

27 27 MiSeq Genome Web MiSeq

28 FDA! FDA MiSeq! FDA! ! FDA MiSeq FDA! FDA! MiSeq NCBI NCBI 28

29 FDA 29

30 MiSeq Continuous Performance Improvements Path towards 15Gb per run; enabling broader range of applications 30

31 MiSeq R&D Demonstrated Scalability Long read runs in excess of 20Gb 31

32 32

33 TruSight! TruSight Autism: TruSight Cancer: TruSight Cardiomyopathy: TruSight Inherited Disease: TruSight Exome: For research use only and not intended for diagnostic use; however, labs can leverage this content to develop their own unique targeted tests in accordance with CLIA regulations 33

34 TruSight TruSight TruSight TruSight TruSight TruSight Kennedy Krieger Dr. Jonathan Pevsner Cancer Research Dr. Nazneen Rahman GWAS SNP Dr. Heidi Rehm Children s Mercy Hospital Dr. Stephen Kingsmore Human Genome Mutation Database 34

35 TruSight 100x Nano 75bp x2 Micro 75bp x2 75bp x2 TruSight Autism Kb Mb TruSight Cancer Kb Mb TruSight Cardiomyopathy Kb Mb 150 Mb 600 Mb 2.25 Gb TruSight Exome 7.76 Mb 2, Mb TruSight Inherited Disease 3.78 Mb Mb 35

36 36

GWAS GWAS GWAS 2 GWAS

GWAS GWAS GWAS GWAS 2 GWAS Chapter 1 05 HapMap 06 GWAS 07 The Missing Heritability 08 Chapter 2 1000 11 SNP 12 Chapter 3 GWAS Omni 15 GWAS 16 18 19 Chapter 4 21 22 23 3 Chapter 1 2000 6 10 Celera Genomics