Séminaire Imagine Pierre Royer

09:30– 10:00

Welcomme coffee

10:00– 13:00 Chair Stanislas LYONNET

10:00

Understanding regulation from the non-coding genome

Wendy BICKMORE

Director MRC Human Genetics Unit
Institute of Genetics and Cancer, University of Edinburgh, United Kingdom

10:30

Conservation of Regulatory Elements with Highly Diverged Sequences Across Large Evolutionary Distances

Daniel IBRAHIM

BIH Center for Regenerative Therapies & Max Planck Institute for Molecular Genetics
Berlin, Germany

11:00

Synergistic insulation of regulatory domains by developmental genes and clusters of CTCF sites

Alvaro RADA IGLESIAS

Transcriptional regulation in development and congenital disease

Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), CSIC/University of Cantabria, Spain

11:30

Machine-learning scoring of genetics variants in non-coding regions: uncertainty and cooperation in a multi-site setting

Antonio RAUSELL

Clinical Bioinformatics, Imagine Institute, Paris

12:00

Multi-omics in human retina unravels missing heritability in retinal diseases

Elfride DE BAERE

Center for Medical Genetics Ghent (CMGG)

Campus Ghent University Hospital, Ghent, Belgium

LUNCH BREAK

14:10 – 17:00 Chair Anne GUIMIER

14:10

Reaching the challenging regions of the genome

Pietro GATTI, Illumina, Italy

14:30

Human genetics in 3D: from enhancer hijacking to phase separation

Malte SPIELMANN

Direktor Institut für Humangenetik

Lübeck, Germany

15:00

A new locus for craniosynostosis caused by copy number variants flanking FOXD3

Eduardo CALPENA CORPAS

University of Oxford, United Kingdom

15 :30

When non coding comes first

Jeanne AMIEL

Institut Imagine et Service de Médecine Génomique des Maladies Rares Hôpital Necker

Paris, France

15h45

Detection of retrotransposon in monogenic diseases

Arnaud MAILLARD

DES de Génétique

Paris, France

16h15

Is genome sequencing advancing the clinical interpretation of noncoding regions?

Benjamin COGNE

Laboratoire de génétique moléculaire, CHU de Nantes

France