Next generation genomic analysis for next generation healthcare - PowerPoint PPT Presentation

Next generation genomic analysis for next generation healthcare

GENOMIC SEQUENCING | RAPIDLY FALLING PRICES 2003 2018 In 1990, Congress established funding for the Human Genome Project. The project ended up costing about $2.7 billion in FY 1991 dollars �2

GENOMIC SEQUENCING | RAPIDLY FALLING PRICES Now �3

SEQUENCING IS CHEAP| INTERPRETING THE DATA IS NOT $2B GENERATE RAW DATA 
 Interpretation now (Sequencing) Cost & Time / Patient more expensive than sequencing ANALYSE DATA €300 Time 2015 2015 SOURCE: The Economist, 2014, SeqOne 2016 (Not to scale) �4

ANALYSIS COMPLEXITY | BEYOND GENE-PANEL Exome SNV & CNV Gene-panel CNV & SNV RNA differential expression Exome SV Number of patients A single optimised application for each specific analysis need 10% 90% (eg. Vidgil for VDJ re-arrangements in RNA) Legacy Requires richer Etc…. gene-panel genomic analysis analysis enabled by NGS* data SEQONE Analysis complexity AVAILABLE TOOLS �5 SeqOne - Business overview / CONFIDENTIAL * NGS: New Generation Sequencing

PATIENT DEMAND | REQUIRES MASSIVE PROCESS SCALING Scientists are expecting as many as 1 billion people to have their genomes sequenced by 2025. Washington Post 2017 �6 SeqOne - Business overview / CONFIDENTIAL

CURRENT PROCESS | FRAGMENTED, SLOW, EXPENSIVE ANALYSIS AND INTERPRETATION SEQUENCING Expertise-intensive and expensive Automated & affordable Iteration Iteration Doctor Transfer Specific genes 
 Compute / (today) Store Genomics Bioinformatics Infrastructure expert (identify anomalies) (data mgt.) (interpretation) Raw data Sequencing 4 weeks - 6 months Start of process �7 SeqOne - Business overview / CONFIDENTIAL

SeqOne vision A solution that makes genomic testing at high volume as easy, accessible and accurate as any medical test your doctor can order today 8

SEQONE TEAM | GENOMIC ANALYSIS EXPERTS N. Phillipe - CEO / CSO: 10 years experience in NGS genomic analysis, Author open-source RNA-Seq CEO analysis tools, > 20 bioinformatic academic papers. Many international collaborations G Buwalda - CTO: 15 years secure high volume CTO transactional computing (fintech) 
 Paris FRANCE JM Holder - CCO: 25 years experience in international Montpellier business, ex Apple, Palm, Packet Video. Founder of two CCO funded startups. British citizen. Current team of 10 specialists in bioinformatics, biology and CIS. Winner of numerous prizes (iLab, ARC, etc.) �9 SeqOne -CONFIDENTIAL

SEQONE | GENOMIC ANALYSIS EXPERTS CSO CCO CTO CEO Dr. N Philippe 
 G. Buwalda 
 J-M Holder 
 Dr. J Audoux 
 10 years, 15 years, secure, big- 25 years international 5 Years, Computer Bioinformatics, RNA- data, high availability, biz / startups, ex scientist & Bioinformatics Seq specialist open systems Apple, British from RNA to DNA Paris FRANCE Project launch 2014 / Incorporated 2017 Montpellier Current team of 10 Winner ARC H. Stark, iLab Emergence / Creadev €950 funding through SATT and subsidies �10 SeqOne -CONFIDENTIAL

�11

SeqOne | GENOMIC ANALYSIS SIMPLIFIED A SaaS solution that makes genomic testing as easy, accessible and accurate as a blood test AI-driven decision support improves speed and accuracy of results Supports a wide range of genomic tests Scales to meet tomorrow’s patient volumes “SeqOne allows us to perform miracles; we can handle four times the number of patients with the same resources” �12 Pr. Lebre - CHU Reims

USABILITY | EASY-TO-USE AI-DRIVEN PLATFORM App-specific visualization Intuitive UX Artefact removal AI ranked variant s hort-list Coefficient of variation Truly Short “Shortlists” �13 SeqOne - Business overview / CONFIDENTIAL

SUPPORT FOR ALL TYPES OF ANALYSIS | APP CATALOG PREMIUM APPS ONCOMPASS Fusion genes INCA -Sardine Private Mono + Phenotips (Cancer tracking) (RNA analysis) (Bias removal) (blocked) (CHUGA / Gene42) + ADVANCED CHU / PRIVATE CANCER OTHER APPS GeneExp RNA Mono Trio CNV Somatic Mono Somatic Duo QC (Multipurpose) (single sample) (family) (DNA copies) (single sample) (healthy / tumour) (Sample quality) CORE APPS BASIC RARE DISEASES CANCER Other APPS �14 SeqOne - Business overview / CONFIDENTIAL

SCALABILITY | CLOUD/LOCAL INFRASTRUCTURE Cloud User External Data Local 
 Interpretation SeqOne Cloud Environment & 
 SeqOne Data store Cloud Local SeqOne Instance External Data �15 SeqOne - Business overview / CONFIDENTIAL

REGULATORY | QUALITY, TRACEABILITY, SECURITY Platform certification (In-vitro diagnosis CE Mark) All data encrypted and hosted on medical grade secure servers Each data-file, variant and action on the platform logged Versioning of platform, apps and databases to ensure reproducibility Entire process managed on SeqOne from sequencer to final report facilitating lab certification (ISO 15189, COFRAC, etc.) �16 SeqOne - Business overview / CONFIDENTIAL

ARCHITECTURE | MODULAR, OPTIMISED, DISTRIBUTED APPS EASY-TO-USE INTERPRETATION ENVIRONMENT OPTIMISED SOMATIC OPTIMISED MENDELIAN BIOINFORMATIC FRAMEWORK BIOINFORMATIC FRAMEWORK MACHINE LEARNING / AI ENGINE GENOMIC EVENTS DB PRIVATE PRIVATE PUBLIC ANNOTATIONS CACHE STORE 1 STORE 2 VIRTUALISED, SECURE MODULAR STORAGE / COMPUTE CLOUD INSTANCE LOCAL 1 LOCAL 2 �17 SeqOne - Business overview / CONFIDENTIAL

GENOMIC ANALYSIS | MEDICAL APPLICATIONS Cancer $4B 
 Rare diseases 15% CAGR (2017 est.)* Pre-natal, non- Complex disease invasive testing * SOURCE: Bioinformatics Market by Product & Service - �18 SeqOne - Business overview / CONFIDENTIAL Global Forecast to 2023", published by MarketsandMarkets™

RARE DISEASES | KEY FACTS Not that rare : 6-8% of Euro pop. impacted (estimated 350M WW) Serious : 30% of patients die before the age of 5 (source Eurodis) Genomic : 80% linked to genetic causes 6 out of 7 patients not diagnosed (15% diagnostic yield) �19 SeqOne - Business overview / CONFIDENTIAL

IMPROVING DIAGNOSTIC YIELD | NGS EXOME NGS delivers “high-resolution” exome genomic data «Exome sequencing Exomes increase diagnostic yield from means that genomic 15% to 35%-50% diseases can be diagnosed more BUT Exome analysis costs higher quickly » ‣ >3X sequencing (must sequence entire family) ‣ Longer time required to analyse �20 SeqOne - Business overview / CONFIDENTIAL

EXOMES TOO COSTLY | EXOME FAMILY TRIO VS GENE PANEL 5000 € 4.145 3750 Analysis € 1 543 Sequencing Preparation 2500 € 1.350 2 194 € 1250 € 600 200 € 550 € 408 € 0 Gene panel (SeqOne est.) Exome Trio �21 SeqOne - Business overview / CONFIDENTIAL

HELPING RD DIAGNOSTIC WITH AI SOLUTIONS Current Clinical interpretation strategies involves - Hard-filtering - trio-based filtering to shorten variant list (de novo, het-composite) - long manual review into a Excel Sheet SeqOne introduce a Phenotype-based AI ranking strategy to : - Reduce interpretation time made by the expert - Cost-reduction: Index-case sequencing only - Augment diagnostic veld, through IA vs Hard-filtering solution �22

DATA CONSISTENCY | RARE DISEASE TRIAL 30 Exomes for learning - 300 Exomes for testing Data from 8 CHU’s, heterogenous phenotyping & bioinformatics Rankings - Data consistency impacts results: 4-20 15 % 2-3 Median 1 30 % Mean 5 First First 56 % 75% Testing datastet: all in top 20 learning dataset: all in top 5 �23 SeqOne - Business overview / CONFIDENTIAL

OUTCOMES | RARE DISEASE TRIAL 45%-50% diag yield / single exome 
 < 30mins per diag (2.5 X panel perf.) + 5% new diagnoses vs control Causal variants in top 5 on average �24 SeqOne - Business overview / CONFIDENTIAL

HOME MARKET | TRACTION IN RARE DISEASES Lille Rouen Creteil CHU User Reims Brest Paris Rennes Collaboration Strasbourg Dijon Private sector Nantes Lyon Clermond-Ferrand Grenoble Montpellier �25 SeqOne - Business overview / CONFIDENTIAL

SEQONE | CONCLUSION Optimized Secure upload Fast, accurate bioinformatics Dynamic and storage results exploration The simplest, most efficient way to interpret NGS data at scale in clinical settings 26

�27