Sessão de Apresentação do Mestrado em Bioinformática e Biologia Computacional, dia 6 de Maio de 2014 às 16h30 no Anfiteatro da FFCUL

1. “The role of Bioinformatics in basic and
applied research”
Carla Oliveira
Expression Regulation in Cancer Group, IPATIMUP
Medical Faculty of Porto University
Porto, Portugal
E-mail: carlaol@ipatimup.pt
CEO Bioinf2Bio (www.frombioinformatics2biology.com)
Sessão de Apresentação do Mestrado em Bioinformática e
Biologia Computacional
Faculdade de Ciências da Universidade de Lisboa
Lisbon, Portugal
May 6th, 2014
Invitation by: Francisco Couto

2. Genomics Analysis of human genes
Epigenomics DNA and histone-protein modifications
Transcriptomics RNA expression
Proteomics Protein expression and modifications
Metabolomics Low molecular weight substances
Toxicomics Toxic substance
Cellomics Characteristics and functions of living cells
Ex: ArrayCGH, targeted DNAseq, ExomeSeq, WGS
Ex: miRNA microarray & RNAseq
Bioinformatics
biological data storing, retrieving, organizing and analysis
What are OMICs?
Ex: MethylSeq, ChipSeq

3. Research question > Methodology > Platforms > Analysis
Cell/tissue
RNA
Protein
Metabolites
DNA
DATAGENERATION(Tb)
DATA
INTEGRATION
Interpretation
VALIDATION
Integrative
Approach
Methodology
Metabolomics
Proteomics
Transcriptomics
Genomics
Bioinformatics (Statistics, Pathway Analysis Tools...)
From questions to knowledge

4. …this knowledge was expected to allow accurate classification
of phenotypes, early detection of disease, discrimination
among disease sub-types, prediction of clinical outcomes,
characterization of disease progression, and personalize
therapeutic approaches. But…
“For every complex problem there is an answer that is clear, simple, and
wrong.”
H. L. Mencken
From a health perspective...

5. How to use OMICs information to address and study
specific genes and diseases?
1st Generate a relevant and appropriate scientific question or
clinical problem
2nd Study and select the best OMICs strategy
3rd Find the right partners (omics and bioinformatics analysis)
4th Set up reliable bioinformatics analysis and wet lab validation
5th Go back to your original scientific question or clinical problem and
fight against fascination
OMICs in practice

6. Technology: Data Mining and Data Analysis
Knowledge
Data
DataData
Data
Data
Data
Data
Data
Question
+
Selection
Analysis

7. NGS&MICROARRAYDATAANALYSIS
Bioinf2Bio
miRNA
Microarrays
Expression
Microarrays
Tiling
Microarrays
RNAseq
NGS
Methylseq
NGS
DNAseq
NGS
Cadherin intronic transcription
during mouse embryogenesis
(in preparation)
Transcriptome signatures
during TGF-β-induced
EMT and MET
(in preparation)
Novel and rare CDH1
intronic variants: relevance
for HDGC
(in preparation)
Data mining
ERiC
Bioinf2Bio
techniques
Mistranslation
in/and Cancer
(under analysis)
Gastric Cancer Genome &
Transcriptome alterations
(sequencing ongoing @ BGI)

9. NGS&MICROARRAYDATAANALYSIS
Bioinf2Bio
www.frombioinformatics2biology.com
Silver Analysis
Gold Analysis
Platinum Analysis
Bronze Analysis