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Summer School 2018-07-06T08:51:31+00:00
7th Sardinian International Summer School ‘From GWAS to function’

The initiative is financed and implemented with the support of Sardegna Ricerche and the Autonomous Region of Sardinia

7th Sardinian International Summer School ‘From GWAS to function’

This course is designed to explore the current state of the molecular basis of complex genetic variation in humans and to use this information in different research areas applying new methodologies. The course program consists of lectures and practical sessions that are geared toward moving from GWAS data to functional studies. Data from genome-wide association studies will explore, starting from experimental design, through data analysis of genetic control of traits and their impact of functional information on variations.

The course will use a combination of lectures and demonstrations with a heavy emphasis on hands-on data analysis, which requires the active participation of students. The focus will be on making maximum interaction with teachers and the creation of useful contacts with the other participants.

The workshops will use programming languages, applicable tools and web-based portals to analyze high-throughput genotyping and sequencing datasets covering the different topics of the course (low pass and deep coverage whole genome DNA, statistical methods for imputation, analysis of exomes, quantitative and qualitative analysis of the transcriptome, epigenome and other related issues).

Prof. Francesco Cucca

Director of Genetic and Medical Research Institute, CNR, Cagliari, Italy
Professor of Medical Genetics at University of Sassari, Italy

Prof. Marcella Devoto

Professor at The Children’s Hospital of Philadelphia, Division of Human Genetics, USA
Associate Professor of Medical Genetics University of Rome La Sapienza, Italy

Prof. Giovanni Romeo

Director of the European School of Genetic Medicine – Bertinoro , Italy

Morning Lectures
08:30-9:00 Registration
09:00-10:00 Introduction to complex trait genetics– Eleftheria Zeggini (UK)
10:00-11:00 The genomic and functional architecture of human complex traits and diseases – Nicole Soranzo (UK)
11:00-11:30 Coffee break
11:30-12:30 From GWAS to function through natural selection– Anna Di Rienzo (USA)
12:30-14:00 Lunch Break
Afternoon Workshops
14:00-15:30 Computational tools for the identification of adaptive alleles– Anna Di Rienzo (USA)
15:30-16:00 Coffee break
16:00-17:30 Hands-on tutorial to Genome-wide Association Studies (GWAS) – Arthur Gilly (UK)
Morning Lectures
09:00-10:00 Low‐coverage genomewide sequencing approaches for population studies – Goncalo Abecasis (USA)
10:00-11:00 Understanding the function of human genetic variation using transcriptome analysis – Daniel Gaffney (UK)
11:00-11:30 Coffee break
11:30-12:30 Shotgun metagenomics from sampling to analysis –Nicola Segata (Italy)
12:30-14:00 Lunch Break
Afternoon Workshops
14:00-15:30 NGS variant calling – Carlo Sidore (Italy)
15:30-16:00 Coffee break
16:00-17:30 The eQTLs Catalog and LinDA browser – Mauro Pala (Italy)
Morning Lectures
09:00-10:00 Genetic analysis of Neuroblastoma in African Americans – Marcella Devoto (USA)
10:00-11:00 MS genetic – pitfalls and prospects- Stephen Sawcer (UK)
11:00-11:30 Coffee break
11:30-12:30 Student presentations
12:30-14:00 Lunch Break
Free Afternoon
Morning Lectures
09:00-10:00 High-throughput sequencing reveals insights into the relationships between B-cell antibody repertoire, phenotype and function in health, cancer and autoimmune disease – Rachael Bashford-Rogers (UK)
10:00-11:00 Exploring immunity at single-cell resolution- Kylie James (UK)
11:00-11:30 Coffee break
11:30-12:30 From genetics to clinic in autoimmune diabetes – John Todd (UK)
12:30-14:00 Lunch Break
Afternoon Workshops
14:00-15:30 Poster Session
15:30-16:00 Coffee break
16:00-17:30 Microbiome and Metagenome Analysis– Clelia Peano (Italy)
Morning Lectures
09:00-10:00 Genetics of Aging – David Schlessinger (USA)
10:00-11:00 From GWAS to function: The example of the Sardinia founder population – Francesco Cucca (Italy)
11:00-11:30 Coffee break
11:30-12:30 Publishing research to make sure society gains from your science – Myles Axton (USA)
12:30-14:00 Lunch Break
Adjourn and Departure

This summer school is intended for advanced pre-doctoral students, post-doctoral researchers from Biological and Health Sciences and other different backgrounds (including bioinformatics and mathematics) that wish to learn more about or move into the complex genomics field.

  • Attendees should have as prerequisite background knowledge on most of the topics presented during the course.
  • Skills and abilities to work in a Linux system are a prerequisite for attending the workshops.
  • Good spoken and written English is essential for all lectures and workshops.
  • Participants are asked to bring their laptop computers.
  • The course is funded by the Regional Sardinian government and will be free of charge for all attendees.
General Information

Previous editions