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

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)

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

• 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...