Exploring Whole Genome Sequencing Data at Scale: Rare to Common

Exploring Whole Genome Sequencing Data at Scale: Rare to Common

By Precision Healthcare University Research Institute

Researchers and Leading experts discuss the opportunities and challenges of working with whole genome sequencing (WGS) data at scale

Date and time

Location

Charterhouse Square Campus

Charterhouse Square Campus London EC1M 6BQ United Kingdom

Lineup

Agenda

2:30 PM

Welcome: Dr Mine Koprulu & Prof. Claudia Langenberg

2:35 PM

Dr Clare Bycroft, Google DeepMind


“AlphaGenome: advancing regulatory variant effect prediction with a unified DNA sequence model”

3:00 PM

Dr Gareth Hawkes, University of Exeter


“Discovery and architecture of rare non-coding regulatory effects using population-scale whole-genome sequencing”

3:25 PM

Dr Sanna Gudmundsson, SciLifeLab & Royal Institute of Technology


"Improving variant interpretation with sequencing data from over 800,000 individuals"

3:50 PM

Coffee Break

4:10 PM

Dr Hannes P Eggertsson, deCODE Genetics/Amgen inc


“Variant calling at scale using pangenome graphs"

4:35 PM

Prof. Sarah Ennis, University of Southampton


“Using algorithms and AI to identify rare disease diagnoses within a common disease cohort"

5:00 PM

Discussions

5:30 PM

closing remarks & reception

Good to know

Highlights

  • 4 hours
  • In person

About this event

Science & Tech • Science

This seminar will bring researchers and leading experts together to discuss the opportunities and challenges of working with whole genome sequencing (WGS) data at scale. Spanning the allele frequency spectrum—from rare to common variants—and covering diverse variant categories, the event will explore both methodological advances and applications of WGS can be utilized to improve our understanding of biological basis of a wide range of clinical phenotypes. Through short talks and a panel discussion, the seminar aims to highlight new methods, current limitations, and future directions in analyzing WGS datasets in large-scale cohorts.

Organized by

Free
Sep 15 · 2:30 PM GMT+1