Next Generation Bioinformatics on the Cloud

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Jodie Sutton
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Next Generation Bioinformatics on the Cloud http://www.easygenomics.

1 Next Generation Bioinformatics on the Cloud Sifei He Director of BGI Cloud Xing Xu, Ph.D Senior Product Manager EasyGenomics BGI Contact Us

2 Agenda Vision and Strategy Problems and Solutions Product Introduction LIVE Demo Future Roadmap Q&A

Trend of Volume and Cost $/Mb D N A S e q

3 Trend of Volume and Cost $/Mb D N A S e q u e n c e Human Genome Sequenced Figures adapted from Sboner A, et al.: The real cost of sequencing: higher than you think! Genome Biology 2011, 12:125 Numbers and Images from private research and the open Internet 3

4 Geological side of the problem + Sequencing is a COMMODITY and happens EVERYWHERE. BGI Images from omicsmaps.com

5 Interpretation is the KEY Analysis and Interpretation is the KEY Application is the Silver Bullet

In-depth Annotation Data throughput Data storage Computation intensive

6 Difficulties of Analysis Primary analysis Secondary Analysis Tertiary Analysis Post Tertiary Analysis Base calling Mapping Variant Calling In-depth Annotation Data throughput Data storage Computation intensive Data storage Complicated Algorithms Computation intensive Lack of knowledge

7 Problems and Solutions Solutions Cloud High Speed Data Exchange Workflows +) Resource Management Problems: Big genomic data Geological distribution Algorithm integration Computational demand 7

8 EasyGenomics EasyGenomicsis the bioinformatics platform for research and applications on the cloud

9 EasyGenomics Database, Data management Computational Resources Algorithms, Workflows, Reports High speed connection Web portal, Simple UI EasyGenomicsis the bioinformatics platform for research and applications on the cloud

10 Bioinformatics Core Algorithms: Carefully chosen, tested and optimized Workflows: Whole genome resequencing, exome resequencing, RNA-Seq, small RNA, de novo Assembly

11 Enabling Technology Hadoop-based Flexible Computing Best Practice Award for IT Infrastructure Human Genome SOAPdenovo EasyGenomics TM (192 cores) Genome Coverage 86% 86% Assembly Time 70h 55h No. of Servers 1 15 Memory Size 500GB x 1 24 GB x 15 Mode Centralized Distributed 11

12 Data Management Sample A Analysis I Analysis II Raw Data Sample B Analysis X Project I Sample, Analysis, Project Mimicking real research procedure Automatic management of underlying data structure

13 High Speed Data Exchange Aspera spatented fasp high-speed file transferring technology 10~100X fasterthan FTP 13

14 Resource Management Managed Multitenancy Workspace Data Structure Managed Task Safe Backup

15 Security Access Multitenancy Isolation Compliance Username/Password Biometric access HTTPS, Asperafastp TM Trusted database connection ACL, Data encryption Physical isolation Virtual isolation ISO27000

16 Introduction to EasyGenomics TM Xing Xu, Ph.D Senior Product Manager

17 Homepage Navigation Tabs Three task portals Status of recent works Warning and Logging

18 Project Table Add/Remove Project Project list table Filter and search box Operation short cuts

19 Analysis Table

20 Sample Table

21 Read Upload Read Upload Portal

22 Upload Raw Data Create a Sample

23 Upload Raw Reads (Asperaconnect server)

24 Create a sample Create a Sample

25 Create a Sample Sequencing information Add Read Group Filter settings Mapping settings

26 Add read groups Create a Sample

27 Sample Page Individual report for each lane Summarized report for all lanes

28 Sequencing Quality Report 28

29 Mapping Report 29

30 Data Analysis Portal Create a Analysis

31 Create an Analysis

32 Create an Analysis Selected sample(s) One selected sample => Single Analysis Multiple selected samples => Batch Analyses

33 Create an Analysis Selectable modules Predefined Settings Shortcut

34 Create an Analysis

35 Create an Analysis Customizable

36 Create an Analysis

37 Create an Analysis

38 Data Harvest Portal Data Management

39 Upload Management

40 Download Management

41 LIVE DEMO

42 Sifei He Director of BGI Cloud 42

43 Applications Complex -Omicsresearch Genetic testing Diagnostics

44 One More Thing FREE Ref: BOSTON Please Visit BGI 213 Subject to T&C

45 Q & A 45

46 BACKUP 46

DNA. bioinformatics. genomics. personalized. variation NGS. trio. custom. assembly gene. tumor-normal. de novo. structural variation indel.

DNA. bioinformatics. genomics. personalized. variation NGS. trio. custom. assembly gene. tumor-normal. de novo. structural variation indel. DNA Sequencing T TM variation DNA amplicon mendelian trio genomics NGS bioinformatics tumor-normal custom SNP resequencing target validation de novo prediction personalized comparative genomics exome private