Corporate Overview of BioNano Genomics, Inc. September 2016
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1 Corporate Overview of BioNano Genomics, Inc. September 2016
2 BioNano Is the Key to Unlocking the $100+ Billion Potential of the Genomics Market Market Size Growth Catalyst Key Driver Bottleneck $40B- $110B Precision Medicine Precision Genomes Genome Structure Sequencing (Genomics) Mkt.: JPM: $20B ( 14) $110B ( 16) UBS: $40B ( 16) rapid growth Application of genomics to precision medicine is the growth catalyst Current genome analysis is not comprehensive enough to make precision medicine effective Current tools fail to reveal the structure of a genome at the chromosome level BioNano s Irys reveals genome structure, enables precision medicine and untethers the genomics market potential 2
3 Genome Structure Drives Biology Structural Variation Drives Disease SVs Involving One Chromosome SVs Involving Two Chromosomes Genome structure is the order, orientation and quantity of genes and other functional elements in the genome Structural variations (SVs) involve rearrangement or replication of thousands, and sometimes millions, of base pairs Hundreds of human diseases are already known to be caused by SVs No tool, prior to BioNano s, existed to comprehensively and cost efficiently reveal a genome s structure By systematically elucidating SVs, BioNano can cause a flood of new diagnostics and drug discovery, unlocking the promise of precision medicine 3
4 The Problem with Using Next-Gen Sequencing to Study Genome Structure Is the Lack of True Long-Range Genomic Information Ch 1 Ch 4 Truth Repeated Sequence Unique Sequences Problem How many s (repeated sequences) go next to each other? Which chromosome do the s go on? Ch 1 Ch 4 Solution BioNano sequence maps Span nearly all repeats to enable accurate and complete assemblies 4
5 BioNano Irys Uses Optical Mapping to Deliver the Unparalleled Long-Range Information that Reveals Genome Structure and Variation Raw Contiguity 1000 Improved Throughput Gigabasses per run (log scale) Current Kbp 1 Mbp Length (log scale) HiSeq MiSeq PacBio MinION 10X Sanger Ion Torrent 454 SOLID BioNano 5
6 Our Economic Engine Is the Irys System for Genome Mapping IrysView IrysPrep Irys IrysSolve IrysChip 6
7 Irys Has Become the Global Leader in Basic and Translational Research BioNano Irys systems installed 7
8 The Alliance with Berry Genomics Enables BioNano to Next Transform Clinical Cytogenetics Genetic Disorders Develop Submit Market Cancer Together, BioNano and Berry can revolutionize the very rapidly expanding market in China for karyotyping, FISH and microarrays 8
9 Technology
10 The Key of Irys Is Its Proprietary Nanoscale Confinement Biophysics tells us that by using a gradient of micro and nanostructures we can load and confine long DNA molecules into nanochannels for imaging. Free DNA Solution DNA in a Microchannel DNA in a Nanochannel Gaussian Coil Partially Elongated Linearized Genomic organization and architecture is related and directly observable in linear DNA. Molecules are suspended in biologically relevant buffers for full analysis and repeated imaging. Linearization requires 2D confinement in space the size of persistent length (150 bp) ~50 nm. 10
11 Irys Nanochannel Arrays on Silicon Leveraging Established Semiconductor Industry Technologies The IrysChip Leverages mature semiconductor manufacturing High-quality wafer-scale manufacturing in state-of the-art semiconductor facility Thousands of parallel nanochannels Imparts uniform and orderly format for accurate measurements High-throughput cartridge Multiple samples per device 11
12 Nanochannels Enable Unprecedented Single Molecule Imaging of Truly Long Strands of DNA Sequence motif labeling: Nickases PNAs Zinc fingers Antibodies Etc. Molecules are suspended and imaged in massively parallel nanochannel arrays 12
13 Irys Workflow 13
14 BioNano s Nanochannel Technology Is Covered by an Extensive IP Portfolio BioNano has the industry leading patent estate in long-range genomic technology 36 issued, 1 allowed and 101 pending patents worldwide U.S. Outside U.S. Worldwide Total Issued Allowed Pending Total
15 Applications & Markets
16 Two Main Applications for Irys: Structural Variation and Scaffolding Structural Variation Discovery & Detection Translational research Clinical Known content Dx New content Dx Drug discovery Hybrid Scaffolding Platinum genomes Reference genomes Plant & animal Basic research Molecular breeding 16
17 Structural Variation Detection & Discovery: BioNano Sees What Illumina Misses NGS NGM Variation Type SNPs & Indels (<2kb) Variation Type SVs (>2kb) Size of Variant Oct. 15 BioNano Customer Presentation: This graph depicts the density of SVs found (y axis) relative to the size of the SV found (x axis) for NGM (solid lines) against NGS (dotted lines). For SVs greater than 2,000bp, NGS has very significant drop in detection. NGM s ability to see SVs picks up where NGS drops off. All SNPs, Indels & SVs 17
18 Irys Is the Only System that Systematically Finds the SVs that NGS Misses 7.3x Improvement in Sensitivity for SVs over NGS NGS 215 January 2016 Genetics Publication, UCSF BioNano Genomics 1,570 SVs Found (>5kb) 18
19 Proving the Importance of SV Detection: Ongoing UCLA Pediatric Developmental Delay & Autism Spectrum Disorder Study Highlights of the Collaboration Background BioNano and UCLA announced the collaboration in October 2015 Dr. Vilain previously investigated 814 pediatric cases with presumed genetic disorders that predominantly remained undiagnosed despite exhaustive testing efforts This study mainly focused on sequencing the protein coding regions of a patient's genome The study showed a 26% diagnostic yield (was unsuccessful in identifying the cause of genetic disorders in 74% of the study patient population) Dr. Vilain is using multiple Irys systems in his lab to conduct research on samples obtained from 80 undiagnosed patients Institution Principal Investigator Area Technologies to be Replaced or Augmented Sample Types Eric Vilain, M.D., Ph.D. Pediatric Disorders (e.g. DMD) NGS Blood 19
20 BioNano s Irys Is the Driver of New Prostate Cancer Research The BioNano Irys ran prostate cancer samples at the Garvan Institute and found novel SVs, nearly all of which were undetectable using Illumina instruments 1/10 of BioNano s SVs detected with NGS Only one-tenth of the large SVs found by BioNano were detectable using high-coverage Illumina runs and automated five-tooled bioinformatic analyses 100x greater likelihood of oncogenic potential in BioNano-found SVs While less than 0.5% of Illumina-called variations showed oncogenic potential, over 50% of the BioNano-called variations directly impact a gene or gene region 94% of BioNano-called SVs were verified With BioNano-derived target regions identified, manual inspection of corresponding NGS reads and de novo assembled scaffolds allowed for 94% of BioNano-called SVs to be verified 20
21 Examples of Human Clinical Samples Run on Irys Human samples are being run on Irys to either: Confirm SV detection as a proof of principle and/or Begin to show a path to a better, faster and/or cheaper method relative to a standard of care Selected examples of human clinical samples run on Irys: DMD proof of principle shows that Irys detects the disease-causing heterozygous deletion FSHD improved quantification by Irys of the D4Z4 repeat array occurring at chr 4q DiGeorge Syndrome proof of principle shows that Irys detects the heterozygous 22q11 microdeletion Multiple Myeloma confirms detection of three hallmark variations (2 translocations and 1 deletion) CML confirmatory study shows that Irys detects the chr 9-13 translocation; also discovered a unique deletion on chr 13 CLL confirms detection of chr 9-22 translocation resulting in the BCR-ABL fusion protein (Philadelphia chromosome) 21
22 The First Clinical Application is SV Detection As a Replacement for Karyotyping and FISH Example: BioNano Can Replace Dual Method (Karyotyping & FISH) for Finding the 8 Lesions of AML Karyotyping BioNano Irys Disease SVs Dual Method Test AML del(5q) inv(3) inv (16) t(8,21) t(15,17) t(9,11) t(6,9) t(1,22) Chromosome analysis (Karyotyping) + Fluorescence In Situ Hybridization (FISH) FISH Systematic SV detection to simplify hematological malignancy detection 22
23 Irys Is the Go To Technology for Hybrid Scaffolding: BioNano & PacBio Seminal publication shows that Irys resolves genome complexity that NGS alone cannot PacBio Alone BioNano Alone Hybrid (PacBio + BioNano) Improvement By Adding BioNano # of Scaffolds 22,433 1, % reduction June 2015 Nature Methods Publication, Mt. Sinai N50/Scaffold N50 906kb 4.6Mb 31.1Mb 34.0x increase 23
24 Irys Is the Go To Technology for Hybrid Scaffolding: BioNano, Illumina & 10x Another seminal publication shows that Irys resolves genome complexity that NGS alone cannot Illumina +10x BioNano Alone Illumina + 10x + BioNano Improvement By Adding BioNano # of Scaffolds 5,697 1, % reduction May 2016 Nature Methods Publication, UCSF N50/Scaffold N50 7.0Mb 4.6Mb 33.5Mb 4.8x increase 24
25 Irys Complements All Three NGS Approaches for Comprehensive Genome Assembly NGS or or NGM Unprecedented levels of completion for human and non-human genome assemblies Eliminates need for laborious, time-consuming and extremely costly clone methods (BAC, YAC, etc) Essential for creating gold standards for bio-marker discovery and for building reference genomes for non-model organisms BioNano is the essential component for achieving these results 25
26 BioNano Is the Key to Unlocking the $100+ Billion Potential of the Genomics Market Market Size Growth Catalyst Key Driver Bottleneck $40B- $110B Precision Medicine Precision Genomes Genome Structure Sequencing (Genomics) Mkt.: JPM: $20B ( 14) $110B ( 16) UBS: $40B ( 16) rapid growth Application of genomics to precision medicine is the growth catalyst Current genome analysis is not comprehensive enough to make precision medicine effective Current tools fail to reveal the structure of a genome at the chromosome level BioNano s Irys reveals genome structure, enables precision medicine and untethers the genomics market potential 26
27 Appendix
28 BioNano Is the Only Company Positioned to Be the Genome Structure Solution BioNano s Focus on Genome Structure Importance Human disease is driven by variations in genome structure Problem No tools are available for finding SVs in an economically viable and timely manner Solution BioNano s Irys: the only tool that systematically finds SVs Opportunity Market is as large as sequencing BioNano is the only company that systematically reveals genome structure and thereby human disease 28
29 Illumina Fails to See Most SVs Because It Cannot Span Most Repeats Over Half the Human Genomes Is Tied Up in Them Cumulative Number of Base Pairs in Repeats in the Human Genome (hg19) as a Function of Repeat Size Comprehensive SV detection requires long-range mapping which spans nearly all repeats. Repeats (LINE, SINE, LTR, satellites, simple repeats, low complexity and unclassified) Segmental duplications Over half of the human genome is composed of repeat segments where many structural variations (SVs) are located. Structural variations (SVs) are being found to be inextricably linked with human disease. Sequencing reads that do not span segments of repeats become indistinguishable from one another. BioNano s long-range information complements NGS by extending the range of what s visible in genomics 29
30 Accelerated Expansion of BioNano s Market Reach Will Be Driven By the Publications from Irys Users # of Publications Published (Cumulative) In In Process 30
31 Management Erik Holmlin, PhD President & Chief Executive Officer Han Cao, PhD Founder & Chief Scientific Officer Mike Ward Chief Business Officer Mark Borodkin VP Systems Development Sean Paolino VP Finance Domain Associates Exiqon BD GeneOhm Applied Proteomics Xagenic Dupont Princeton U Penn Peking Univ USTC Credit Suisse Wasserstein Leerink Partners Brooks Life Science Affymetrix Siemens Healthcare Life Technologies Life Technologies Applied Biosystems 31
32 Board and Scientific Advisors David Barker, PhD Chairman; Independent Director Former CSO Illumina Darren Cai, PhD Legend Capital Brian Halak, PhD Domain Associates Albert Luderer, PhD Independent Director CEO Integrated Dx Pui-Yan Kwok, M.D., Ph.D. Henry Bachrach Distinguished Professor, University of California, San Francisco Charles Lee, Ph.D. Director, The Jackson Laboratory for Genomic Medicine Co-chair of the Structural Genomic Variation Analysis group for the 1000 Genomes Project ( 32
33 The Leader in Genome Structure Contact: R. Erik Holmlin, Ph.D. President & Chief Executive Officer O: C: Mike Ward Chief Business Officer O: C:
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