RNA-seq of peripheral blood of patient heterozygous for COPA p.R1142X mutation
RNA was isolated from PAX tubes. 100 to 250ng of RNA was used as input for the Lexogen QuantSeq 3' mRNA libraries. These libraries were sequenced on a Illumina HiSeq4000 generating single-end 51bp reads. Optical duplicates and adaptors were removed with clumpify and fastx-toolkit, respectively. Next the reads were mapped to the human reference genome with Star 2.6. and gene expression matrices were generated with HTSeq (version 0.10.0)