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scHLApers is an analysis pipeline that quantifies single-cell expression of HLA genes using a personalized genomic reference. Mapping of HLA expression quantitative trait loci at single-cell resolution identifies dynamic effects across cell states.
In single-cell studies, combining healthy reference atlases and designed control datasets allows more precise identification of disease-associated cell states.
Genes encoding members of mammalian SWI/SNF (BAF) complexes are frequently mutated in individuals with neurodevelopmental disorders (NDDs). Mutant NDD residues include some unique to NDD and those shared with human cancers, impacting key structural hubs.
Re-analysis of published RNA-sequencing samples finds that unannotated splicing events predict, with high sensitivity, the activation of exon skipping and cryptic splicing by splice-site variants.