biostudies-arrayexpressRaphael CarapitoHomo sapienshttps://www.ebi.ac.uk/biostudies/studies/E-MTAB-15257We extracted RNA from PBMCs of patient and 3 matched healthy donors to identify disease associated gene expression pathwaysbiostudies-arrayexpressLibrary Construction - SMARTer® Stranded Total RNA-Seq Kit v2 (Takara, Otsu, Shiga, Japan)Sequencing - paired-end (2x75bp) on NextSeq500 (Illumina, San Diego, CA)Nucleic Acid Extraction - RNA was extracted sing RNeasy® Mini Kit and QIAamp® RNA Blood Mini Kit (Qiagen, Hilden, Germany)Sample Collection - PBMC were isolated from total EDTA blood using density gradient centrifugation (Pancoll #P04-67500, PAN-Biotech GmbH, Aidenbach, Germany or Ficoll, CMSMSL01-01, Eurobio scientific, Courtaboeuf, France)OrganizationMINSEQE ScoreAssays and DataProcessed DataMAGE-TAB FilesData Transformation - For each sample, quantification data were loaded with the EdgeR package (Robinson et al., 2010) in order to create an abundance matrix. A trimmed Mean of M-values normalization (TMM) was applied and counts were converted in cpm (Counts per Millions).Sequence Alignment - Sequence reads were mapped to Homo sapiens hg19 using STAR (Dobin et al., 2013) to obtain a BAM (Binary Alignment Map) file. Quantification was processed by HTSeq-count (Anders et al., 2015).UnknownTranscriptomicsGenomicsProteomicsNextSeq 2000RNA-seq of coding RNAHomo sapiensRaphael CarapitofalseComparison of transcriptomes in PBMCs between Griscelli-like patient and healthy controls by RNA-seqWe extracted RNA from PBMCs of patient and 3 matched healthy donors to identify disease associated gene expression pathways2025-07-07T00:00:00Z2025-06-25T13:35:40.988Z2025-06-25T13:35:40.988ZE-MTAB-15257ERP174026E-MTAB-14991EFO_0002944EFO_0004170EFO_0004917EFO_0005518EFO_0003816EFO_0003738EFO_0004184