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
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: http://bit.ly/ucscBasics
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
18:00 – 18:30 hrs | Break
18:30 – 19:45 hrs | Concurrent Symposia S07-S12
S07.1 Transcriptional programs of brain tumors
S07.2 Epigenomics of single cells in cancer
S07.3 Intratumoral genetic heterogeneity at a single cell resolution
S08.1 Ancestry characterization of the Chilean population and its relevance to health
S08.2 The Mexico Biobank Project
S08.3 Ethics and inclusivity when working with indigenous populations
S09.1 AAV gene therapy for glycogen storage diseases
S09.2 mRNA replacement therapy for inborn errors of liver metabolism
S09.3 Lentiviral vectors for liver-directed gene therapy
S10.1 Genetic predisposition to medulloblastoma: Somatic evolution and clinical implications
Sebastian M. Waszak;
S10.2 Non-Invasive Early Lung Cancer Detection
S10.3 Therapeutic vulnerabilities from epigenetic alterations in cancer
S11.1 DNA methylation episignatures in Mendelian neurodevelopmental disorders
S11.2 Neuronal phenotyping to assess ID/DD variants
S11.3 Variants and cellular traits
S12.1 Cytoskeletal organization and function in oocyte meiosis
S12.2 Meiotic crossover – novel insights
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
Note that the programme is subject to change, and will be updated continuously up to the conference