Three 20-minute presentations illustrating the scientific work that can be done with the 100,000 Genomes Project (Genomics England).
This includes a brief description of the Oxford GEL user group and the meetings that are planned across the year.
1400-1410 Matteo Ferla — What is Genomics England and the Oxford GEL User Group
1410-1430 Becky Tooze — Increasing the diagnostic yield for craniosynostosis using data from the 100,000 Genomes Project
1435-1455 Alistair Pagnamenta — An ancestral 10bp repeat expansion in VWA1 causes recessive spinal muscular atrophy