read count table of ly_111 cohort

Blood RNAseq read counts of rare disease and controls. All samples were subjected to Whole Blood RNA-seq protocol and sequenced on Illumina NovaSeq 6000 platform with 150 bp paired-end reads. Total RNA was isolated with TRIzol-based RNA extraction. Quality of RNA was assessed by determination of the RNA integrity number (RIN) with a Bioanalyzer (Agilent). Next, polyadenylated RNA (mainly mRNA) was enriched with theNEBNext Poly(A) mRNA Magnetic Isolation Module (NEB, USA) followed by fragmentation, cDNA synthesis and library construction with the NEBNext Ultra™ II RNA Library Prep Kit for Illumina (NEB, USA). A minimum of 50 million reads were generated per sample. FASTQ files were processed with an inhouse pipeline. Raw reads were cleaned with fastp (v0.20.0), mapped with HiSat2 (v.2.1.0) to the GRCh38 GENCODE genome assembly and Gencode v41 as transcriptome reference. SNPs and indels were called using the GATK short variant discovery recommended pipeline with GATK (4.1.3.0) and STAR (2.5.3).