Extended Data Fig. 4: Haplotype-specific chromatin accessibility of NBEA promoter and transcript NMD.
a, Per-molecule chromatin accessibility of the NBEA promoter along both the der(13) and intact chr13 chromosomes within patient-derived fibroblasts. Chromatin accessibility was measured using Fiber-seq. b, Schematic representation for resolving whether the fusion transcripts are being subjected to nonsense-mediated decay (NMD). Specifically, long-read transcript sequencing was performed on samples before and after treatment with the NMD inhibitor cycloheximide. The libraries were sequenced to similar depths, and the total number of transcripts corresponding to the NBEA–chrX fusion transcripts was quantified in both samples. c, Same as b, but for the PDK3–MAB21L1 fusion transcript.
