{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Whole Genome Sequencing"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001005157"],"host":["EGA"],"description":["EGA study EGAS00001005157"],"dataset_title":["Selection of somatic escape variants in SERPINA1 in liver tissue of patients with alpha-1 anti-trypsin deficiency - WGS"],"repository":["EGA"],"category":["restricted"],"additional_accession":[]},"is_claimable":false,"name":"Mutational landscape in haemochromatosis  WGS ","description":"Somatic mutation has recently been shown to play a role in disease other than cancer. Driver mutations associated with lipid metabolism and insulin pathway have been identified in non-alcoholic fatty liver disease (NAFLD). It is plausible that driver mutations seen in NAFLD are a consequence of selection pressure exerted on hepatocytes in the context of excess fat accumulation. It has not been investigated whether selection pressure and driver landscape varies between chronic liver diseases of different aetiologies. This study aims to investigate mutational landscape in haemochromatosis, which is a disorder caused by a build-up of iron in the liver. We aim to use data generated by whole-genome sequencing of laser-dissected microbiopsies from diseased livers to characterize driver landscape and mutational signatures in haemochromatosis patients.","dates":{"updated":"2024-11-20 11:26:20"},"accession":"EGAS00001005157","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001015430","EGAC00001000000"]}}