Overview

Personalized Medicine,
Biomarkers …
… Molecular Profiling

First Generation Molecular Profiling

Next Generation Molecular Profiling

Concluding Remarks
 Molecular
Unification
E
Whole-genome Enrichment seq Probes Enrichment Ultra
P Bisulphite seq (MBD, RRBS) (450-27K) Targeted Panels Deep
I

G
Whole-genome Enrichment seq Enrichment Deep
E sequencing (Exome) Targeted Panels Seq
N

E Full genome bp

T
I
109 107 106 105 104 103 102 101 1
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C

RUO Clinical
Sequencing CONFIDENTIAL
Overview

Personalized Medicine,
Biomarkers …
… Molecular Profiling

First Generation Molecular Profiling

Next Generation Molecular Profiling
Next Generation Epigenetic Profiling

Concluding Remarks
Bioinformatics, a life science discipline …

Math

(Molecular)
Informatics
Biology
Bioinformatics, a life science discipline …

Math

Computer Science Theoretical Biology

(Molecular)
Informatics
Biology
Computational Biology
Bioinformatics, a life science discipline …

Math

Computer Science Theoretical Biology

Bioinformatics

(Molecular)
Informatics
Biology
Computational Biology
Bioinformatics, a life science discipline … management of expectations

Math

Computer Science Theoretical Biology

NP AI, Image Analysis
Datamining structure prediction (HTX)
Bioinformatics

Interface Design Expert

Annotation
Sequence Analysis
(Molecular)
Informatics
Biology
Computational Biology
Translational Medicine: An inconvenient
truth
• 1% of genome codes for proteins, however
more than 90% is transcribed
• Less than 10% of protein experimentally
measured can be ―explained‖ from the
genome
• 1 genome ? Structural variation
• > 200 Epigenomes …

• ―space/time‖ continuum
Cellular programming

Epigenetic (meta)information = stem cells

Cellular reprogramming

Tumor

Tumor
Development
and
Growth

Epigenetically
altered, self-
renewing cancer
stem cells
Cellular reprogramming

Gene-specific
Epigenetic
reprogramming
 Wobblebase Mission

provide tools to both specialists (researchers,

bioinformaticians, health care providers) and
individual consumers that unlock the power of
genomic data to the USER

enable personalized genomics today by simplifying

the way we organize, visualize and manage
genomic data.
 PGM: Personal Genomics Manifesto

Everybody who wants to get his genome sequenced has the human right to do so.
No third party can own your genetic data, your genetic data is exclusively yours.

Nobody can be forced to get his genome analyzed or to reveal his genome to a
third party.

Your genome should allways be treated as confidential, private information.

People should be advised not to share their identity AND their entire genome on a
public forum.

People should be advised to use secure technologies that allow to maximally

protect phenotypic and/or genotype data.

People should be able to actively explore, manage and get updated interpretation
on their genomic data.
 Wobblebase Mission

• change the
diagnostic/healthcare industry
forever by setting a new
standard and empowering the
user
 Choosing the Red Pill

The Technical Feasibility Argument

The Quality Argument
The Price Argument
The Logistics around the sample on howto
manage the data Argument
The Ethical debate
The Privacy/Security concern
 Notifications
Updates are the single moste
important feature of Wobblebase
#Rs1805007
Bioinformatics
Analysis Social
pipelines network
twitter

Wobblebase
e
H
e
a
l
Updates t
Comparison
Notifications h
 biobix
wvcrieki

biobix.be bioinfo
rmatics.be

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