CBTTC Expansion in China through BGICNBC Charles Bao

BGI Introduction • Established in 1999 with participation in the Human Genome Project • World’s largest genomic organization, experienced in genomic research, commercial NGS services, diagnostics, and sequencer manufacturing 2 © 2017 BGI

China National Gene Bank (CNGB Overview) • • Non-profit organization Public Private Partnership (PPP) Jointed funded by State Government, Shenzhen Municipal government and BGI Operated by BGI Research Missions: • • 4 To act as a platform for integrating genetic resources and capabilities To lead the innovation, exploration and testing of new genomics technologies To support the development of the life sciences and bio-economy in China To maintain international competitiveness and influence in global genomics community © 2017 BGI

Platform and Infrastructure Sequencing Platform Synthesis and Editing Platform (reading) Biorepository (sample repository) Global collaborations (writing) Database (data repository) Living biobank (living species repository) Collaborations over the platforms 5 © 2017 BGI 5

CNGB - Biorepository Automatic sample storage system with more than 10 million samples Animal and plant genetic resources 386, 000 Microbial resources 36, 000 Plant germplasm resources (millet etc. ) 5, 000 Chinese unique genetic resources and sample database of millet • Collected 2, 540 millet samples • Sequenced 2, 489 samples with 380 Gb data • Opened samples and data to cooperative breeding institutions The world’s largest repository of human enteric bacteria • Selected 17, 000 bacterial strains • Sequenced 2, 300 strain samples with 11. 5 Gb data • Discovered 100+ new species Genomics: Deciphering the gut flora Was named by Nature as “One of the top tem advancements in science and technology in the world” 6 © 2017 BGI 6

CNGB - Sequencing Platform BGISEQ-500 The BGI Desktop Sequencer with accuracy, flexibility, speed, simplicity and expandability 7 © 2017 BGI Sequencing capacity 150 BGISEQ-500 sequencers, with data output of ~5 PB per year

BGISEQ-500 Sequencing Applications BGISEQ-500 PE 100 Demo Data Transcriptome: http: //www. ebi. ac. uk/ena/data/view/PRJEB 19428 Sample: UHRR（Universal Human Reference RNA） Whole Exome: http: //www. ebi. ac. uk/ena/data/view/PRJEB 19426 Sample: (Genome in a Bottle) Human DNA- NA 12878 Whole Genome: http: //www. ebi. ac. uk/ena/data/view/PRJEB 19427 Sample: (Genome in a Bottle) Human DNA- NA 12878 8 © 2017 BGI

CNGB - Data Repository and Analysis Bio-informatics Data Center • 46 open database • 118 million page views Highly efficient network Cloud storage Cloud computing Aim to establish world’s first multi-omics cloud platform 9 © 2017 BGI

BGI Online Demo Case for Speed Analysis Benchmark: 1000 WES with 100 X Analysis completed within 24 hours Start End 21 h 47 min 12 sec Autism Spectrum Disorder Project: 100 WGS with 30 X Analysis completed within 17 hours 11 © 2017 BGI

Overview of Beijing Tiantan Hospital • Founded in 1956, affiliated with Capital Medical University • A large first-class general hospital with neurosurgery specialty • Patient visits steadily increased tallying up to over 1, 000 outpatient visits and 30, 000 inpatient admissions per year • Founded by Dr. Zhongcheng Wang, Neurosurgery Center of Tiantan • Hospital has been recognized as the largest neurosurgical base in the world 12 © 2017 BGI

Neurosurgical Center • Pediatrics • Brain trauma • Spinal cord & column • Supratentorial tumours • Cerebrovascular disease • Pituitary adenoma and subtentorial tumors • Skull base and brain stem tumours • Endoscopy and functional disease • Intracranial diseases associated with ENT • Glioma center • Ward for officials and VIP 13 © 2017 BGI

Neurosurgical Center Over 12, 000 operations in 2015, tumor 7569; Vascular diseases 1472; Functional neurosurgery 940; Brain trauma 1, 025; Others 834 15 Subdivisons 14 © 2017 BGI 170 Neurosurgeons: • 55 full-time senior professors • 50 associate professors • 65 attending and residences 420 Beds

CNGB – CBTTC collboration More Chinese hospital partners Sample collection and biobanking 16 © 2017 BGI Data generation and analysis Data integration via BGI-Online Hospital enrollment and coordination Joint Education

Collaboration Outcome • CBTTC global network expansion into China • CBTTC diagnosis and treatment standard available to chinese pediatric brain tumor patients • Increased volume of data and clinical case from china expedites genetic discovery at CBTTC • Enrich CNGB biorepository and database resource 17 © 2017 BGI