Psychencode

Study maps microexon splicing code tied to autism-associated gene variants

Researchers analyzed large collections of human and mouse RNA sequencing data—including bulk RNA-seq, TRAP-seq, single-nucleus and single-cell RNA-seq—to catalog known and previously unannotated microexons, short stretches of RNA that can be spliced into genes. Using a modified version of the MicroExonator pipeline alongside whole-genome sequencing and PsychENCODE/NIMH data, the team identified a regulatory pattern governing microexon inclusion and linked variation in this process to genetic changes found in people with autism.