Towards Data Driven MedicineBy Dr. Jurgi Camblong

Table of Contents

Clinical Applications By Dr. Pierre Hu!er

Cu!ing-Edge TechnologiesBy Dr. Zhenyu Xu

Building Trust With Data Security & Privacy By Dr. Adam Molyneaux

The World’s Largest Clinical Genomics Community

Commi!ed To Patients

4

6

10

12

14

8

LEARN"MORE > Table of Contents

Towards Data Driven Medicine By Dr. Jurgi Camblong, CEO and Co-Founder ”Our solution acts as a

real disruptor by breaking down the information silos in healthcare. ”Dr. Jurgi Camblong

The advent of ground-breaking genomic technologies in the clinical environment, such

as Next Generation DNA Sequencing (NGS), bioinformatics, and artificial intelligence,

has started a new healthcare era, which unlocked new opportunities for patients but

also brought new challenges. Data security and privacy, data storage and proper

interpretation of the enormous amount of clinical information generated are some of

the difficulties arising from healthcare’s paradigm shi$ to precision medicine. A shi$

that promises to treat the causes of a disease rather than its consequences.

Spearheading this revolution as the Global Leader in Data Driven Medicine, Sophia

Genetics has triggered rapid advances in clinical genomic analysis by bringing together

expertise in genomics, bioinformatics, machine learning and data privacy. Through the

development of precise algorithms, using world-leading machine learning approaches

combined with human expertise, Sophia Genetics helps clinicians quickly adopt its

cu!ing-edge technologies for accurate genomic data analysis. Our platform is the most

advanced in the field, used daily by hundreds of hospitals to help them be!er, faster and

more precisely diagnose and treat patients.

4

LEARN"MORE> Table of Contents

Clinical ApplicationsBy Dr. Pierre Hu!er, CSO and Co-Founder

The democratisation of genomic technologies

and their rapid adoption by hospitals permits

a much faster and more accurate identification

of mutations related to more than 5’000

different diseases. Our self-learning algorithms

accurately analyse sequenced genomic

information, leveraging the colossal amount

of data in an individual’s medical records with

a direct benefit for the patient. Coupled with

molecular evidence and streamlined processes,

we help hospitals to provide more accurate

diagnoses and physicians to take be!er and

faster decisions with more effective treatment

plans. Our solutions are designed for quick and

precise identification of all types of relevant

genomic alterations with applications in several

areas including oncology, hereditary cancers,

cardiology, pediatrics and metabolic disorders.

In oncology, our advanced solutions already

allow for the detection of cancer thanks to non-

invasive liquid biopsies and the identification of

circulating tumour DNA directly from patients’

bloodstream.

6

Accurate SNP and

INDEL Detection

Superior CNV Resolution

Advanced Variant Annotation

LEARN"MORE > Table of Contents

Medical information must systematically be accurate to enable clinicians to take the best

decisions for their patients. However, the sheer complexity and countless possible combinations

of recent genomic technologies introduce strong biases in the collected genomic information.

Our advances in data analytics, machine learning and bioinformatics have been applied to our

algorithms, eliminating biases from raw sequenced data to reach the sensitivity and specificity

demanded by clinical grade standards, regardless of the type of sample or sequencing

technology used. It has allowed us to build the trust required to convince hundreds of hospitals

to join our platform. To ensure accurate analysis workflows and reliable variant identification,

we make sure that every combination goes through specifically designed experiments to be

validated and match our wet lab and output standards. It safeguards sensitivity, specificity,

reproducibility and repeatability.

Starting from raw genomic data, our 3 core algorithmic technologies - PEPPER™, MUSKAT™

and MOKA™ - bring the necessary accuracy and robustness to reach clinical standards, while

also promoting data mutualisation and characterisation. Our algorithms constantly evolve

under strict version control and continuously learn from data flow for optimal performances.

8

Cu!ing-Edge Technologies" By Dr. Zhenyu Xu, CTO

Launched in April 2014, Sophia DDM® is the most advanced analytical platform for clinical

genomics designed to perform routine clinical diagnostic testing. In order to have the best

solution in the field, we had to reach and maintain the highest standards in data privacy,

accuracy and effectiveness. The importance of privacy in genomics affects not only

the patients, but also their relatives, considering the hereditary nature of many disease-

inducing genetic variations. Yet, knowledge-sharing and data mutualisation throughout the

community are a necessity in order to treat patients as well as possible. To protect data and

confidentiality, the framework around our platform has to be optimal, which means: secure,

robust, reproducible and precise.

We guarantee complete control and privacy over patients’ data. Through local encryptions

in hospitals, any information that can identify the patient is separated from the raw data and

is only available to the clinician. We use our own hardware, housed in restricted secure

data centres just like a private bank. Sophia Genetics is the first European company with

both ISO 27001 (Information Security Management) and ISO 13485 (Medical Devices Quality

Management) certifications.

Building Trust With Data Security & PrivacyBy Dr. Adam Molyneaux, Director of IT

LEARN"MORE

> Table of Contents10

LEARN"MORE> Table of Contents

By focusing on clinical grade analytical performance,

data protection, and privacy, Sophia Genetics has

built the trust required to shape the World’s Largest

Clinical Genomics Community. Through data pooling

and machine learning, Sophia DDM® is constantly

improved thanks to the mutualisation of NGS data and

knowledge sharing of genomic variants interpretation,

thereby creating a coherent collective intelligence

and unlocking the immediate benefits of precision

medicine for all patients. The adoption of this

revolutionary collective approach is the key to making

Data Driven Medicine a reality. The information from a

patient in Paris can for instance help be!er diagnose

and treat someone else in London.

Additionally, our community truly unlocks the

democratisation of Data Driven Medicine throughout

the world by allowing member hospitals without any

DNA sequencing technology to send their biological

samples to another member of the community.

They will then get exclusive access to their patients’

results via our online platform.

The World’s Largest Clinical Genomics Community

12

LEARN"MORE

Here at Sophia Genetics, we all believe in the genomic revolution with a passion. The priority of our cross-disciplinary team, composed of exceptional talents, is to leverage the combined knowledge and experience to help as many patients as we can. The greatest minds in genomics, bioinformatics, machine learning and data privacy are all working towards this shared goal,

Committed To Patientscontinuously honing algorithms, improving offers, and expanding services for the benefit of doctors and their patients around the world. About 80% of our organization holds a PhD, ranging from Molecular Biology to Computer Science. This international and dedicated team is the key to democratising Data Driven Medicine with the constant aim of benefi"ing patients.

14 > Table of Contents

@SophiaGeneticsinfo@sophiagenetics.comsophiagenetics.com+41 (0) 21 694 10 60

© So

phia

Gen

etic

s 20

16 -

PM-0

33r1e

n

JOIN"THE"WORLD’S"LARGESTCLINICAL"GENOMICS"COMMUNITY