Summer School ran between
July, 8th – July, 26th,
for 5 days/week, 6 hours/day,
between 09:30 – 17:30,
with 3 hours of teaching and 3 hours of workshop

Section 1 – Medical

Day 1Opening & Organisational
Medical reason for the course
Genetics perspective
Genetics Fundamentals (2 hours)
medical perspective over the need for the integrated approach with specific examples from Urology, Cardiology, Gastroenterology, Genetics  perspective
general principles of genetics
announce the group components
give validated data sets per group for exercising from existing data repository for educational purposes (mockup data)
Day 2Epidemiology perspective
Epidemiology Fundamentals
Workshop Genetic Epidemiology
workshop
Phenotype – genotype correlation (1 hour)
example of epidemiology study design based on provided “use-cases” (1 hour)
Epidemiology perspective
general principles of genetic epidemiology
workshop data:teacher mock-up data

Section 2 – Statistics & Bioinformatics

Day 3Bioinformatics
Fundamental elements of statistical genetics
Elements of statistical study design
Workshop
statistical tools
statistical basic processing
basic data visualisation
examples based on genetic data sets
R based
work individually on given examples and share partial results with the group
each student run the workshop exercises on its group’s data set
workshop data:group mock-up data & teacher mock-up data
Day 4Elements of genetic risk analysis – Part 1
Genetics: LL frequencies, HWE
Example of population admixture
Workshop biostatistical tools – plinkissingness by phenotype
Missingness by genotype
Hardy-Weinberg
Allele frequencies
LD-based SNP pruningMendel errors
plink based
each student run the workshop exercises on its group’s data set
workshop data:group mock-up data& teacher mock-up data
clinical implications of data processing
Day 5Elements of genetic risk analysis – Part 2
Quantitative Statistical Tests ← linear regression (smoking)
Genetics: linkage disequilibrium, haplotypes
Bioinformatics methods & principles
Workshop
Case/control
Fisher’s exact
Stratified analysis
Quantitative trait
Linear and logistic models
Multiple-test correction
plink based
each student run the workshop exercises on its group’s data set
workshop data:group mock-up data & teacher mock-up data
clinical implications of data processing
Day 6Elements of Data Science
Data load
Data cleansing
Data visualisation
Data processingData comparison
Reproducible research
Workshopexample of data processing (from problem to result)
bioinformatic exercises
Present project topics and ask for bid preparation (groups formation, format for bid presentation: pick 2 topics and explain what the group will deliver)
R based
plink based
each student run the workshop exercises on its group’s data set
workshop data:group mock-up data&teacher mock-up data
additional  phenotypical data set for data cleansing & processing to be used together with group mock-up data set
Day 7Bioinformatics
Biologic consequences of genetic variants/gene mutations
Genetic variances in Genetic Epidemiology context (GWAS)
WorkshopGWAS studyOutput analysisR based
on-line tools: ClinVar, DBsnp, BioGPS, Snpedia, Gtex
exercises are structured in hierarchical manner based on difficulty
each student run the workshop exercises on its group’s data set
workshop data:group mock-up data&teacher mock-up data
clinical implications of data processing
Day 8Advanced Applied Genetics
Replication studies
Quantitative trait loci
Genetic pathways & gene integration
Workshop
Replication study
Visual representation
R based
end-to-end example run by Project team as a template of data processing part of the cookbook
workshop data:group mock-up data&teacher mock-up data
clinical implications of data processing

Section 3 – Research

Day 9Bioethics principles
informed consent
GDPR elements
Elements of ethics of scientific publication
Elements of Research methodology
Specific steps and examples for genomics data science projects
cookbook for  genomic project preparation built on:
bioinformatics template
bioethics template
within Research methodology template
Cookbook will be used for capstone project preparation and evaluation

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Day 10Prepare and writing a scientific articleProject bidListen to the presentation and allocate topics to each group
allocate the topic and the group data sets from past project s of the UMF (RomCan) topics pre-defined
Day 11Visits to the clinics associated with the project topicProf. Jinga VProf. Jinga MProf. Vinereanuphenotypic and epidemiological data collection
genetic sampling
clinical visit
clinical case report
Day 12Project work
student access to work space fro group meetings
student access to eLearning platform for content review and group forum
teacher access to group forum fro question answering
Day 13Project work
student access to work space fro group meetings
student access to eLearning platform for content review and group forum
teacher access to group forum fro question answering
Day 14Project work
student access to work space fro group meetings
student access to eLearning platform for content review and group forum
teacher access to group forum fro question answering
Day 15Project presentation
Closing
proper space for capstone presentation
Feedback collection and evaluation of the project team