Nanopore cDNA Sequencing of Chronic Lymphocytic Leukemia

While splicing changes caused by somatic mutations in SF3B1 are known, identifying full-length isoform changes may better elucidate the functional consequences of these mutations. We have performed nanopore sequencing of full-length cDNA from CLL samples with and without SF3B1 mutation, as well as normal B cell samples. With long reads, we analyzed alternative splicing patterns associated with SF3B1 mutation at an isoform-level.

• Type: Case-Control
• Archiver: The database of Genotypes and Phenotypes (dbGaP)