A novel integrative multi-omics approach to unravel the genetic determinants of rare diseases with application in sinusoidal obstruction syndrome - Waespe, Nicolas; Mlakar, Simona Jurkovic; Dupanloup, Isabelle; Rezgui, Mohamed Aziz; Bittencourt, Henrique; Krajinovic, Maja; Kuehni, Claudia E.; Nava, Tiago; Ansari, Marc (PloS one, 2023)
Keywords: Alkylation; Analysis; Apoptosis; Association analysis; Biological activity; Biology and Life Sciences; Busulfan; Busulfan - therapeutic use; Cell death; Clinical outcomes; Data analysis; Datasets; DNA testing; Enzymes; Gene expression; Genes; Genetic aspects; Genetic engineering; Genome-Wide Association Study; Genomes; Genomics; Genotypes; Hematopoietic Stem Cell Transplantation - adverse effects; Hematopoietic stem cells; Hepatic Veno-Occlusive Disease - etiology; Humans; Incubation; Infectious diseases; Liver; Liver diseases; Lymphoblastoid cell lines; Medicine and Health Sciences; Methods; Multiomics; Patients; Phenotype; Phenotypes; Physical Sciences; Rare diseases; Rare Diseases - complications; Regression analysis; Research and Analysis Methods; Sine waves; Single-nucleotide polymorphism; Software; Statistical analysis; Stem cell transplantation; Stem cells; Transcriptomics; Transplantation; Switzerland