CBTTC Expansion in China through BGI/CNBC Charles Bao, Ph.D General Manager BGI Americas Corporation 2017 CBTTC Annual Investigator Meeting May 8th, 2017

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

BGI Quick Facts

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: 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

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

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 380Gb 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”

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

BGISEQ-500 Sequencing Applications BGISEQ-500 PE100 Demo Data Transcriptome: http://www.ebi.ac.uk/ena/data/view/PRJEB19428 Sample: UHRR（Universal Human Reference RNA） Whole Exome: http://www.ebi.ac.uk/ena/data/view/PRJEB19426 Sample: (Genome in a Bottle) Human DNA- NA12878 Whole Genome: http://www.ebi.ac.uk/ena/data/view/PRJEB19427

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

BGI-Online Cloud Solution

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

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 1,000,000 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

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

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

Pediatric Neurosurgery

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

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