Two mutations in RNA splicing factors from the same cell confirmed with single-cell DNA-Seq

Challenging the dogma that single nucleotide variants (SNVs) in RNA splicing factors do not occur in the same cell due to their synthetic lethal interactions and/or convergent effects, Dr. Justin Taylor from the Abdel-Wahab lab at Memorial Sloan Kettering Cancer Center shows that indeed they can. Using Mission Bio’s single-cell sequencing platform, they sequenced close to 100,000 single cells and found instances in which mutations in splicing factors co-occurred within the same cells. Dr. Taylor shares his and his co-authors’ recent publication in the journal Blood, which looks at rare patients with myeloid malignancies with mutations in two RNA splicing genes.