biostudies-arrayexpressFazio GraziaHomo sapiensLocal run managerhttps://www.ebi.ac.uk/biostudies/studies/E-MTAB-14349The PAX5 gene is one of the cancer predisposing genes that confer high penetrance susceptibility selectively to childhood BCP-ALL. Here we report a family with a new combination of PAX5 germline and somatic variants.biostudies-arrayexpressSample Collection - Mononuclear cell by ficoll density purification of Bone Marrow samplesNucleic Acid Extraction - DNA was extracted from cell pellets using the Promega kit Wizard® SV Genomic DNA Purification Systems.Library Construction - For library preparation we used the Illumina Nextera Flex for Enrichment protocol using IDT probesSequencing - The NGS run has been performed on NexSeq550 Illumina platform, 2x150OrganizationMINSEQE ScoreAssays and DataMAGE-TAB FilesUnknownTranscriptomicsGenomicsProteomicsNextSeq 550DNA-seqHomo sapiensFazio GraziafalseFamily with PAX5 Germline Mutation in siblings affected by Acute Lymphoblastic LeukemiaThe PAX5 gene is one of the cancer predisposing genes that confer high penetrance susceptibility selectively to childhood BCP-ALL. Here we report a family with a new combination of PAX5 germline and somatic variants.2025-08-31T00:00:00Z2025-08-31T01:02:24.674Z2024-08-09T09:51:05.554ZE-MTAB-14349ERP163130EFO_0002944EFO_0004170EFO_0002693EFO_0005518EFO_0004184