GoT-Splice: single-cell multi-omics to define the impact of splicing mutations

Frederico discusses his team’s work using long cDNA reads derived from nanopore sequencing of single cells to identify splicing aberrations in haematopoietic cell subpopulations. Using long nanopore reads, the team were able to identify mutations throughout a transcript — they used this to their advantage, capturing mutations within transcripts of splicing factor SF3B1, and investigating their impact on haematopoiesis and the development of myelodysplastic syndrome.