Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms.

ABSTRACT: Large-scale sequencing studies of hematologic malignancies have revealed notable epistasis among high-frequency mutations. One of the most striking examples of epistasis occurs for mutations in RNA splicing factors. These lesions are among the most common alterations in myeloid neoplasms and generally occur in a mutually exclusive manner, a finding attributed to their synthetic lethal interactions and/or convergent effects. Curiously, however, patients with multiple-concomitant splicing factor mutations have been observed, challenging our understanding of one of the most common examples of epistasis in hematologic malignancies. In this study, we performed bulk and single-cell analyses of patients with myeloid malignancy who were harboring ≥2 splicing factor mutations, to understand the fre

SUBMITTER: Taylor J 

PROVIDER: S-EPMC7515689 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature