I’m either going to be
one of the first to be
able to outrun a cancer
like this, or I’m going to
be one of the last to die
from it.
Steve Jobs - 2007
Sequencing
technologies
Analytics
2003 = 3 bio $
2016 = <1’000 $
Clinical Diagnostics
Machine learning
raw
data
HospitalsPatient
?
resu
lts
Genomic testing workflow
Specific bioinformaticpipeline activated
Our Approach: Mutualization
11
• Our Service is available in a Software as a Service (SaaS) mode
• Our approach is to mutualize data from many labs across Europe and other continents
• We store and protect data (FASTQ, BAM & VCF) on behalf of our customers
• The raw data is used to learn and improve the algorithm
• The members of the Sophia Genetics community feed their own database of variants
Platform for routine clinical genomics
Accurate SNP and
INDEL detection
Superior CNV
resolution
Advanced variant
annotation
Top analytical performance
Shortened turn-around time
Accelerated adoption of NGS tests
Pre-validated tests – achieve top analytical performance
14
Algorithm that adapts to each combination of
1. Sample Type (blood-PBL, tumor,…)
2. Targeted gene panel
3. Amplification/capture technology
4. NGS Instrument
Commercial Panels
Custom Panels
Qualification, optimisation, validation and quality control performed by Sophia Genetics
marking of pipelines when appropriate
Currently: > 115 pipelines
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Quality
check
Sequence
alignment
Variant
calling
Variant
annotation
Variant
filtering
Raw data Results
Facilitate your ISO 15189 accreditation
16
AnalyticalPerformance
Report
Documentation & Procedures Method Validation
Medical Laboratories - Requirements for Quality and Competence
One patient’s cancer looks like the one of 8’000 other patients, with best response with treatment X
Our Vision
Basic Copyright Notice & Disclaimer
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