Live Sessions

Please note that all times below refer to Central European Summer Time

10:00 – 11:30 hrs | Plenary Session PL2

The What’s New? Highlight Session is dedicated to the highest scored papers from abstract submission for the ESHG 2021 conference.
The deadline for abstract submission is February 12, 2021. Do not miss the opportunity to be able to present your work in this exclusive slot!

Selected presenters will be informed after all abstracts have been reviewed and confirmed by the Scientific Programme Committee mid-March 2021.

11:30 – 12:00 hrs | Break

12:00 – 13:30 hrs | Concurrent Sessions C07-C12 from submitted abstracts

13:30 – 14:00 hrs | Break

14:00 – 15:00 hrs | Corporate Satellites

More information

15:00 – 15:45 hrs | Live e-Poster Viewing with Authors

15:45 – 16:00 hrs | Break

16:00 – 17:00 hrs | Workshops W01-W06

Workshop Organisers:  Carla Oliveira, Conxi Lazaro

Workshop Organisers:  Hennie Burggenwirth, Sam Riedijk

Workshop Organisers:  Carla van El, Guido de Wert

Workshop Organiser:  Robert Kuhn

About the workshop:

The UCSC Genome Browser has been an important source of data and visualization for genetics research and clinical professionals for more than 20 years. The Browser continues to add new features, and even experienced users frequently disclose that they have missed important innovations. This workshop will demonstrate the latest from the Browser.

We have recently revised our representations of data important to the interpretation of variants in the clinical context. Working with ClinVar, ClinGen, gnomAD and others, we now make the details of items displayed in the Browser more available via mouseover in the main Browser graphic. In this way, multiple variants in a region can be investigated more quickly, without a required click-through.

We have also implemented a new feature called “Recommended Track Sets” – one each for copy-number variants and single nucleotide variants. Using this feature, users may, from any location in the genome, launch a pre-configured session with important data automatically displayed.

A new data type has been introduced to aid in the display of ClinVar SNV variants with phenotypes in the five clinical classes (pathogenic > benign), simultaneously showing the variant classes and the number of reports of the variant in each class.

We also now display a data track of exon-capture kits from various manufacturers. This allows users to evaluate the coverage of the genome both when choosing kits for use and to assist in the interpretation of whole exome sequencing experiments.

A number of other new features will also be shown: Mouseover values on wiggle tracks; CADD values; new fonts available

Participants should have experience with the Genome Browser and are encouraged to follow along with the presentation on a separate device. Attendees with limited experience with the Browser would benefit from viewing the three basic video tutorials before attending:

Workshop Organisers:  Nicole de Leeuw, Erica Gerkes

Workshop Organisers:  Gijs Santen, Helger Ijntema

17:00 – 17:30 hrs | Break

17:30 – 18:00 hrs | Corporate Satellites

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18:00 – 18:30 hrs | Break

18:30 – 19:45 hrs | Concurrent Symposia S07-S12

S07.1 Transcriptional programs of brain tumors

Claudia Kleinman;

S07.2 Epigenomics of single cells in cancer

Renee Beekman;

S07.3 Intratumoral genetic heterogeneity at a single cell resolution

Linghua Wang;
United States

S08.1 Ancestry characterization of the Chilean population and its relevance to health

Ricardo Verdugo;

S08.2 The Mexico Biobank Project

Andrès Moreno;

S08.3 Ethics and inclusivity when working with indigenous populations

Emma Kowal;

S09.1  AAV gene therapy for glycogen storage diseases

Dwight Koeberl;
United States

S09.2  mRNA replacement therapy for inborn errors of liver metabolism

Paolo Martini;
United States

S09.3  Lentiviral vectors for liver-directed gene therapy

Alessio Cantore;

S10.1 Genetic predisposition to medulloblastoma: Somatic evolution and clinical implications

Sebastian M. Waszak;

S10.2 Non-Invasive Early Lung Cancer Detection

Maximillian Diehn;
United States

S10.3 Therapeutic vulnerabilities from epigenetic alterations in cancer

Nada Jabado;

S11.1 DNA methylation episignatures in Mendelian neurodevelopmental disorders

Bekim Sadikovic;

S11.2 Neuronal phenotyping to assess ID/DD variants

N.Nadif Kasri;

S11.3 Variants and cellular traits

Helena Kilpinen;

S12.1 Cytoskeletal organization and function in oocyte meiosis

Melina Schuh;

S12.2 Meiotic crossover – novel insights

Scott Keeney;
United States

S12.3 Chromosomal errors originating in oocytes determine the curve of natural fertility in humans

Eva R. Hoffmann;

19:45 – 20:15 hrs | Break

20:15 – 21:45 hrs | Corporate Satellites

More information

Note that the programme is subject to change, and will be updated continuously up to the conference