ATAC-seq to profile the chromatin accessibility in T-cell blasts from individuals with an AIOLOS E82K and Q402X mutation and healthy controls

ATAC-seq was performed for T-cell blasts for the following study groups: healthy controls (HC, n=6) and patients with AIOLOS E82K (n=6) and Q402X (n=1). ATAC-Seq was performed using the Active Motif ATAC-Seq Kit following the manufacturer's protocol and sequenced using the Illumina NextSeq 2000 with 42-bp paired end reads. Using Basepair bioinformatics tools and pipelines (https://www.basepairtech.com/), reads were aligned using Bowtie2, and peaks were called with MACS2 and annotated using Homer. Differential testing, annotation, and visualization were performed using R (v.4.3.1) and the following Bioconductor R packages (https://bioconductor.org/): DESeq2 (v.1.40.2), DiffBind (v.3.10.1), ChIPQC (v.1.36.1), ChIPseeker (v.1.36.0), clusterProfiler (v.4.8.2), and goseq (v.1.52.0). Overall design: ATAC-seq profiling for T-cell blasts from individuals with an AIOLOS E82K and Q402X mutation and healthy controls