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

Problem of identifying the biological relevant transcript(s) GA4GH MANE project, etc. - 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)

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...