
Schedule
We have a wonderful program arranged. Access to all sessions/workshops, lunches and welcome reception are included in your registration fee.
This is a draft schedule that may change at a later time during 2019.
Monday 25th May 2020
- Registration 8.00 am - 10.30 am
- Pre-meeting Workshop(s) 9.00 am - 10.30 am
- Official Symposium Opening - 11.00 am sharp
- Welcome Reception 19.00 - 20.30
Tuesday 26th May
- Symposium Continues 8.30 - 18.00
Wednesday 27th May
- Symposium Continues 8.30 - 17:00
- Proposed End 17.00
Confirmed Presentations
this list is growning - we are inviting... and you can send an abstract
When the NGS pipeline fails: solving exceptional cases- Johan T. den Dunnen
Experiences with Long-Read Sequencing - Alexander Hoichen
Editing (CRISPR/Cas9): Application for functional tests - Rocia Acunia Hidalgo
The MANE project: Identifying reference transcripts in human protein coding genes - Jane Loveland
ACMG Variant Classification/Interpretation Workshop - Andreas Laner
GA4GH Variation Representation Schema v.1.0 - Reece Hart
Ensembl - speaker to be confirmed
(*to be confirmed)
While we work on the program you may view the program from the last event to get an idea of what it may be like
Proposed Topics
SEQUENCING TECHNOLOGIES
- Single Cell Sequencing / Technologies
- Single molecule sequencing
- Long- read sequencing
- Long-read RNA sequencing
- Emerging or novel technolgies for variant detection
- Non-SNV type of variants
VARIANT INTERPRETATION IN PRACTICE
- Update on ClinGen Recommendations to the ACMG-AMP system
SOFTWARE, DATABASES, BIOINFORMATICS
- High-throughput clinical systems
- ClinGen interpretation system
- Artificial intelligence in data systems related to genomics
- Ensembl
- In-house vs commercial interpretation software
- Block-chain (or other secure systems) technology for genomic/patient data storage
- Variants and electronic medical records
- Big data/databases/Cloud Genomics
- Impact of FDA recognition of selected variant databases
APPLICATIONS
- Rethinking population screening & Testing Guidelines
- Cancers:Colorectal & BRCA
- Editing (CRISPR/Cas9)
- Epigenetics
- Metagenomics
LARGE PROJECTS
- 10,000 animals project
- Genomics England
- All of Us
OTHER...
- Frontiers of direct to consumer testing
- & more...
