{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["HiSeq X Ten;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001002227"],"sample_count":["3"],"description":["EGA dataset EGAD00001002227"],"repository":["EGA"],"title":["Whole Genome Sequencing of JK Family"],"additional_accession":[]},"is_claimable":false,"name":"EGAS00001001323-sc-20160629 - samples","description":"In collaboration with Dr David Savage, we have identified a patient with a very unusual\nphenotype, lacking almost all visceral fat, but showing a massive accumulation of white fat\ntissue behind her neck and significantly elevated liver fat.\nWhole exome sequencing of the proband and her unaffected parents and brother has been\nrun previously, however no causative variant has been found and the sequencing coverage\nwas generally poor. We propose to conduct whole genome sequencing of all 4 family\nmembers at a depth of 30X.","dates":{"updated":"2017-07-26 15:39:27"},"accession":"EGAD00001002227","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAC00001000205","EGAS00001001323"]}}