Missed this session but definitely one that I’ll watch on the #virtualplatform. Grateful to #eshg2026 for having it!
Nelson Martins
🧬 Suzi Walker, Genomics England
Can RNAseq help solve more rare disease cases?
RNAseq from 7,841 participants in the 100kgp
Abberant splicing confirmed in >50% of known case - limited by expression in blood
Also new candidate variants identified
#ESHG2026
