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NO 
INFINITE 
PROBABILITY 
DRIVE 
INSIDE 
UP 
TO 
200X 
FASTER 
THAN 
CONVENTIONAL 
TOOLS 
Genalice B.V. the Netherlands confiden'al 
WE 
HAVE 
ALWAYS 
THOUGHT 
THERE 
WAS 
SOMETHING 
FUNDAMENTALLY 
WRONG 
WITH 
DNA 
MAPPING 
THE 
END 
OF 
THE 
BIG 
BAM 
THEORY 
GENALICE 
Building 
the 
“Google 
DNA” 
company 
ICT 
& 
MedTech: 
new 
business 
opportuni'es 
Jos 
Lunenberg 
Chief 
Business 
Officer
Today’s 
Journey 
▲ the 
drive 
▲ the 
opportunity 
▲ the 
status 
▲ the 
environment 
▲ the 
route 
▲ the 
hurdles 
confiden'al 
2
THE 
DRIVE 
confiden'al 
3
The 
drive 
One 
Size 
Does 
Not 
Fit 
All 
confiden'al 
4
DNA 
3.2 
billion 
base 
pairs 
Organized 
in 
23 
chromosome 
pairs 
The 
cause 
confiden'al 
5
The 
soluIon 
Targeted 
treatment 
based 
on 
molecular 
profiling 
is 
the 
solu'on 
PaIents 
with 
same 
condiIon 
DNA 
PaIents 
with 
same 
condiIon 
Profiling 
Good 
responders 
No 
responders 
Bad 
side 
effects 
confiden'al 
6
The 
soluIon 
Personalized 
Medicine 
confiden'al 
7
The 
soluIon 
Biomarkers 
and 
the 
diagnosIcs 
process 
confiden'al 
8
THE 
OPPORTUNITY 
confiden'al 
9
The 
vision 
At 
the 
brink 
of 
the 
BIGGEST 
change 
in 
medicine 
Enabled 
through 
advances 
in 
DNA 
digitaliza'on 
and 
by 
powerful 
data 
analysis 
Sequencing 
Adapted 
from 
“The 
Crea've 
Destruc'on 
of 
Medicine” 
by 
Eric 
Topol, 
MD 
confiden'al 
10 
Cell 
Phone 
Personal 
Computer 
Internet 
Digital 
Devices 
Social 
Networks 
The 
Great 
InflecIon 
of 
Medicine 
Accelera.on 
of 
Technology 
1970 
1980 
1990 
2000 
2010 
2020
The 
market 
developments 
Main 
sequencing 
methods 
& 
cost 
development 
11 
Company 
Method 
Sanger 
Ins'tute 
Sanger 
Roche 
454 
pyro 
Illumina 
Solexa 
Applied 
Biosystems 
(LT) 
SOLiD 
Life 
Technologies 
Ion 
Torrent 
semiconductor 
Complete 
Genomics 
DNA 
nanoball 
Helicos 
Biosciences 
Heliscope 
single 
molecule 
Pacific 
Biosciences 
Single 
molecule 
real 
'me 
(SMRT) 
Oxford 
Nanopore 
Nanopore 
DNA 
Illumina’s introduction 
of the HiSeq X Ten
The 
momentum 
DNA 
data 
digitalizaIon 
is 
skyrockeIng 
Number 
of 
sequenced 
full 
human 
genomes 
is 
exploding 
Adapted from Technology Review, May/June 2012, ‘Bases to Bytes’ by Mike Orcutt 
confiden'al 
12
Hans 
Karten 
(1961) 
13 
The 
wizkid 
Chief 
ExecuIve 
& 
Technology 
Officer 
▲ BSc 
Electrical 
Engineering 
▲ 14 
years 
career 
at 
Oracle 
Corpora'on, 
patentee 
of 
11 
patents 
▲ 7 
years 
pro-­‐deo 
“Chairman 
of 
the 
Bap'st 
Church” 
in 
Harderwijk 
▲ 3 
year 
technical 
due-­‐diligences 
for 
a 
Venture 
Capitalist 
▲ Co-­‐founder 
of 
GENALICE
The 
mission 
confiden'al 
14
Data 
processing 
and 
analysis 
soluIon 
for 
sequencing 
speed 
increases 
confiden'al 
15
16 
THE 
STATUS
DNA 
data 
processing 
& 
analysis 
workflow 
GENALICE 
product 
proposi'ons 
Individual NGS data 
analyses 
confiden'al 
17 
GENALICE MAP 
GENALICE LINK 
GENALICE CHECK 
The 
product 
porcolio 
Downstream 
analysis 
Clinical 
Decision 
Support 
Preprocessing 
Next 
GeneraIon 
Sequencing 
Correlation with 
other domains 
&
MAP 
in 
overview 
Next-­‐GeneraIon 
Sequencing 
data 
processing 
Preprocessing 
components 
Preprocessing 
Components Alignment Variant calling Annotation 
Description Mapping individual 
reads on right position 
Statistical correction of 
detected variants 
Variant qualification and 
association with existing 
knowledge 
confiden'al 
18
IntergalacIc 
speed 
Up 
to 
100x 
faster 
-­‐ 
from 
FASTQ 
to 
VCF 
in 
30 
minutes* 
using 
a 
small 
commodity 
hardware 
server 
with 
a 
dual 
Intel 
Xeon 
E5 
processor 
*NGS data preprocessing for one full human genome (37x coverage) 
confiden'al 
19
Storage reduction (fold change) 
Size 
magers 
Taking 
control 
of 
the 
NGS 
big 
data 
deluge 
Human 
Up 
to 
100x 
smaller 
alignment 
output 
file 
1000 genomes 
Cultivated 
tomato 
Wild 
tomato 
100 
75 
50 
25 
0 
100x 
71x 
15x 
ALIGNMENT OUTPUT PER 
HUMAN GENOME 
400 
GB 
4 
GB 
CONVENTIONAL 
TOOLS: 
GENALICE 
MAP: 
confiden'al 
20
Scalable 
soluIon 
GENALICE 
MAP 
product 
proposiIon 
Delivered 
in 
an 
all-­‐in-­‐one 
appliance: 
the 
GENALICE 
VAULT 
Product 
components: 
▲ MAP 
nodes 
(alignment 
& 
variant 
calling) 
▲ CONTROL 
node 
(workflow 
management 
& 
real-­‐'me 
monitoring) 
▲ GAR 
toolkit 
(incl. 
SAM/BAM/FASTQ 
converter 
and 
IGV 
viewer) 
Product 
features: 
▲ Storage 
on 
board 
(incl. 
SSDs) 
▲ Embedded 
Oracle 
database 
▲ Graphical 
User 
Interface 
▲ High 
level 
security 
XS 
S 
M 
L 
XL 
2 4 
* HGE37 = Human Genome Equivalents with an average of 37x coverage sequenced 
# Each MAP server only contains a dual standard INTEL XEON Processor E5-2620 
confiden'al 
21 
Storage 
Maximum 
number 
of 
HGE37* 
500 
1,000 
2,500 
4,000 
10,000 
Performance 
align 
& 
call 
HGE37/day 
average 
48 
144 
240 
336 
624 
minutes 
to 
align 
& 
call 
a 
HGE37 
average 
30 
10 
6 
4 
2 
Average 
total 
realignment 
days 
for 
fully 
loaded 
appliance 
10 
7 
10 
12 
16
THE 
ENVIRONMENT 
confiden'al 
22
Market 
Environment 
CompeIIve 
environment 
MAP 
A 
crowded 
& 
scagered 
market 
space… 
▲ Descrip'on: 
Processing 
of 
raw 
NGS 
data 
in 
prepara'on 
of 
analysis 
Software Hardware 
▲ Solware 
suites 
included 
in 
NGS 
machines 
by 
its 
FPGA accelerated 
confiden'al 
23 
Complementary 
vendors 
Open Source 
▲ Open 
source 
tools 
Commercial 
▲ Commercial 
specific 
hardware 
soluIons 
▲ Solware 
soluIons/suites 
▲ Consultancy 
services 
▲ Turnkey 
appliances 
Cloud enabled 
▲ Cloud 
services 
▲ Cloud 
placorm
Market 
Environment 
CompeIIve 
environment 
MAP 
…with 
many 
players 
Software Hardware 
FPGA accelerated 
confiden'al 
24 
Complementary 
Open Source 
Commercial 
Cloud enabled 
BowTie2, BWA
CompeIIve 
environment 
MAP 
…but 
also 
one 
with 
significant 
room 
for 
improvement 
Speed 
confiden'al 
25 
Accuracy 
Format 
(C/E) 
Market 
Environment
THE 
ROUTE 
26
THE 
PLAN 
Business 
Strategy 
▲ Key 
/ 
Social 
Opinion 
Leader 
management 
▲ Focus 
on 
high 
volume 
centers/ini'a'ves 
▲ Focus 
high 
complexity 
data 
opportuni'es 
▲ Disrup've 
market 
penetra'on 
(costly) 
▲ Partnerships 
with 
global 
top 
ins'tutes 
▲ Partnerships 
with 
key 
market 
players 
(e.g. 
Intel, 
Illumina) 
confiden'al 
27
Global 
Launch 
42andMoore 
– 
seong 
new 
unofficial 
WR 
confiden'al 
28
THE 
HURDLES 
confiden'al 
29
THE 
HURDLES 
confiden'al 
30 
▲ Team
The 
team 
confiden'al 
31
THE 
HURDLES 
confiden'al 
32 
▲ Team 
▲ Money
THE 
HURDLES 
confiden'al 
33 
▲ Team 
▲ Money 
▲ Market 
dynamics
34 
The 
market
THE 
HURDLES 
confiden'al 
35 
▲ Team 
▲ Money 
▲ Market 
dynamics 
▲ Support
Excellent 
team 
and 
network 
Our 
board 
of 
directors 
confiden'al 
36 
Former 
posiIons: 
CEO 
of 
Crucell 
(sold 
to 
J&J 
for 
2.4B) 
Board 
member 
Galapagos 
(listed 
AMEX) 
Professor 
of 
entrepreneurship 
at 
IESE 
Business 
School 
in 
Barcelona 
Former 
posiIons: 
Group 
Management 
Royal 
Philips 
Chairman 
of 
the 
Board 
at 
Crucell 
Serial 
Enterpreneur 
Former 
posiIons: 
Founder 
and 
Managing 
Director 
Tango 
and 
RouteMobiel
Excellent 
team 
and 
network 
Our 
scien'fic 
advisory 
board 
Prof. 
Edwin 
Cuppen 
UMC 
Utrecht 
Head 
of 
Research 
Medical 
Gene'cs 
confiden'al 
37 
Amsterdam 
Prof. 
Gerrit 
Meijer 
VUmc 
Amsterdam 
Principal 
Inves'gator 
TraIT 
(CTMM)
THE 
HURDLES 
confiden'al 
38 
▲ Team 
▲ Money 
▲ Market 
dynamics 
▲ Support 
▲ Credibility
Credibility 
▲ Live 
up 
to 
claims 
& 
promises 
▲ KOL 
support 
▲ Give 
opportunity 
to 
test 
drive 
▲ Push 
new 
format 
confiden'al 
39
Low 
cost 
High 
speed 
High 
quality
the 
company 
confiden'al 
41

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20141014 smb meet inn- genalice

  • 1. NO INFINITE PROBABILITY DRIVE INSIDE UP TO 200X FASTER THAN CONVENTIONAL TOOLS Genalice B.V. the Netherlands confiden'al WE HAVE ALWAYS THOUGHT THERE WAS SOMETHING FUNDAMENTALLY WRONG WITH DNA MAPPING THE END OF THE BIG BAM THEORY GENALICE Building the “Google DNA” company ICT & MedTech: new business opportuni'es Jos Lunenberg Chief Business Officer
  • 2. Today’s Journey ▲ the drive ▲ the opportunity ▲ the status ▲ the environment ▲ the route ▲ the hurdles confiden'al 2
  • 4. The drive One Size Does Not Fit All confiden'al 4
  • 5. DNA 3.2 billion base pairs Organized in 23 chromosome pairs The cause confiden'al 5
  • 6. The soluIon Targeted treatment based on molecular profiling is the solu'on PaIents with same condiIon DNA PaIents with same condiIon Profiling Good responders No responders Bad side effects confiden'al 6
  • 7. The soluIon Personalized Medicine confiden'al 7
  • 8. The soluIon Biomarkers and the diagnosIcs process confiden'al 8
  • 10. The vision At the brink of the BIGGEST change in medicine Enabled through advances in DNA digitaliza'on and by powerful data analysis Sequencing Adapted from “The Crea've Destruc'on of Medicine” by Eric Topol, MD confiden'al 10 Cell Phone Personal Computer Internet Digital Devices Social Networks The Great InflecIon of Medicine Accelera.on of Technology 1970 1980 1990 2000 2010 2020
  • 11. The market developments Main sequencing methods & cost development 11 Company Method Sanger Ins'tute Sanger Roche 454 pyro Illumina Solexa Applied Biosystems (LT) SOLiD Life Technologies Ion Torrent semiconductor Complete Genomics DNA nanoball Helicos Biosciences Heliscope single molecule Pacific Biosciences Single molecule real 'me (SMRT) Oxford Nanopore Nanopore DNA Illumina’s introduction of the HiSeq X Ten
  • 12. The momentum DNA data digitalizaIon is skyrockeIng Number of sequenced full human genomes is exploding Adapted from Technology Review, May/June 2012, ‘Bases to Bytes’ by Mike Orcutt confiden'al 12
  • 13. Hans Karten (1961) 13 The wizkid Chief ExecuIve & Technology Officer ▲ BSc Electrical Engineering ▲ 14 years career at Oracle Corpora'on, patentee of 11 patents ▲ 7 years pro-­‐deo “Chairman of the Bap'st Church” in Harderwijk ▲ 3 year technical due-­‐diligences for a Venture Capitalist ▲ Co-­‐founder of GENALICE
  • 15. Data processing and analysis soluIon for sequencing speed increases confiden'al 15
  • 17. DNA data processing & analysis workflow GENALICE product proposi'ons Individual NGS data analyses confiden'al 17 GENALICE MAP GENALICE LINK GENALICE CHECK The product porcolio Downstream analysis Clinical Decision Support Preprocessing Next GeneraIon Sequencing Correlation with other domains &
  • 18. MAP in overview Next-­‐GeneraIon Sequencing data processing Preprocessing components Preprocessing Components Alignment Variant calling Annotation Description Mapping individual reads on right position Statistical correction of detected variants Variant qualification and association with existing knowledge confiden'al 18
  • 19. IntergalacIc speed Up to 100x faster -­‐ from FASTQ to VCF in 30 minutes* using a small commodity hardware server with a dual Intel Xeon E5 processor *NGS data preprocessing for one full human genome (37x coverage) confiden'al 19
  • 20. Storage reduction (fold change) Size magers Taking control of the NGS big data deluge Human Up to 100x smaller alignment output file 1000 genomes Cultivated tomato Wild tomato 100 75 50 25 0 100x 71x 15x ALIGNMENT OUTPUT PER HUMAN GENOME 400 GB 4 GB CONVENTIONAL TOOLS: GENALICE MAP: confiden'al 20
  • 21. Scalable soluIon GENALICE MAP product proposiIon Delivered in an all-­‐in-­‐one appliance: the GENALICE VAULT Product components: ▲ MAP nodes (alignment & variant calling) ▲ CONTROL node (workflow management & real-­‐'me monitoring) ▲ GAR toolkit (incl. SAM/BAM/FASTQ converter and IGV viewer) Product features: ▲ Storage on board (incl. SSDs) ▲ Embedded Oracle database ▲ Graphical User Interface ▲ High level security XS S M L XL 2 4 * HGE37 = Human Genome Equivalents with an average of 37x coverage sequenced # Each MAP server only contains a dual standard INTEL XEON Processor E5-2620 confiden'al 21 Storage Maximum number of HGE37* 500 1,000 2,500 4,000 10,000 Performance align & call HGE37/day average 48 144 240 336 624 minutes to align & call a HGE37 average 30 10 6 4 2 Average total realignment days for fully loaded appliance 10 7 10 12 16
  • 23. Market Environment CompeIIve environment MAP A crowded & scagered market space… ▲ Descrip'on: Processing of raw NGS data in prepara'on of analysis Software Hardware ▲ Solware suites included in NGS machines by its FPGA accelerated confiden'al 23 Complementary vendors Open Source ▲ Open source tools Commercial ▲ Commercial specific hardware soluIons ▲ Solware soluIons/suites ▲ Consultancy services ▲ Turnkey appliances Cloud enabled ▲ Cloud services ▲ Cloud placorm
  • 24. Market Environment CompeIIve environment MAP …with many players Software Hardware FPGA accelerated confiden'al 24 Complementary Open Source Commercial Cloud enabled BowTie2, BWA
  • 25. CompeIIve environment MAP …but also one with significant room for improvement Speed confiden'al 25 Accuracy Format (C/E) Market Environment
  • 27. THE PLAN Business Strategy ▲ Key / Social Opinion Leader management ▲ Focus on high volume centers/ini'a'ves ▲ Focus high complexity data opportuni'es ▲ Disrup've market penetra'on (costly) ▲ Partnerships with global top ins'tutes ▲ Partnerships with key market players (e.g. Intel, Illumina) confiden'al 27
  • 28. Global Launch 42andMoore – seong new unofficial WR confiden'al 28
  • 30. THE HURDLES confiden'al 30 ▲ Team
  • 32. THE HURDLES confiden'al 32 ▲ Team ▲ Money
  • 33. THE HURDLES confiden'al 33 ▲ Team ▲ Money ▲ Market dynamics
  • 35. THE HURDLES confiden'al 35 ▲ Team ▲ Money ▲ Market dynamics ▲ Support
  • 36. Excellent team and network Our board of directors confiden'al 36 Former posiIons: CEO of Crucell (sold to J&J for 2.4B) Board member Galapagos (listed AMEX) Professor of entrepreneurship at IESE Business School in Barcelona Former posiIons: Group Management Royal Philips Chairman of the Board at Crucell Serial Enterpreneur Former posiIons: Founder and Managing Director Tango and RouteMobiel
  • 37. Excellent team and network Our scien'fic advisory board Prof. Edwin Cuppen UMC Utrecht Head of Research Medical Gene'cs confiden'al 37 Amsterdam Prof. Gerrit Meijer VUmc Amsterdam Principal Inves'gator TraIT (CTMM)
  • 38. THE HURDLES confiden'al 38 ▲ Team ▲ Money ▲ Market dynamics ▲ Support ▲ Credibility
  • 39. Credibility ▲ Live up to claims & promises ▲ KOL support ▲ Give opportunity to test drive ▲ Push new format confiden'al 39
  • 40. Low cost High speed High quality