GSE163522
Alternative splicing and the epigenome in CML remission [WGBS]
Transcriptomic and epigenomic profiling of matched CML diagnosis/remission samples revealed a reconfiguration of gene expression and DNA methylation at remission exhibiting patterns similar to those observed in healthy individuals. In contrast, alternative splicing retains chronic phase-like abnormal patterns. Most dramatic dissimilarities between remission and healthy control samples were observed in intron retention. While reduced DNA methylation around splice sites could explain increased intron retention at diagnosis, maintenance of high intron retention levels at remission has other causes, such as reduced splicing factor expression and histone modifications. Overall design: mRNA sequencing was performed on 16 CML diagnosis and 11 matched remission samples as well as 6 control samples. Whole genome bisulfite sequencing was performed on 10 matched diagnosis/remission samples and 6 healthy controls.