{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001006090"],"sample_count":["5"],"description":["EGA dataset EGAD00001006090"],"repository":["EGA"],"title":["AT-AML samples dataset"],"pubmed_title":["Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R."],"pubmed_authors":["Goldgraben Mae A MA, Fewings Eleanor E, Larionov Alexey A, Scarth James J, Redman James J, Telford Nick N, Arkwright Peter D PD, Bonney Denise D, Wilks Deepti D, Kulkarni Samar S, Taylor A Malcolm R AMR, Tischkowitz Marc D MD, Meyer Stefan S"],"additional_accession":[]},"is_claimable":false,"name":"98be40b5-5141-4ceb-8723-6ddc59a9cda6 - samples","description":"Serial samples from one AT-AML patient as described in publication Goldgraben et al Pediatric Blood & Cancer 2020. \n\nWhole exome sequencing of a AT-'germline' blood sample, one bone marrow sample (at AML diagnosis) and 3 AML blood samples. Library preped using the Illumina Nextera Rapid Capture Exome Enrichment Kit, and sequenced as PE150 on HiSeq4000.\nProvided: 5 BAM files (GRCh37); 2 VCF analyses (germline and somatic)","dates":{"updated":"2020-05-18 07:51:38"},"accession":"EGAD00001006090","cross_references":{"TAXONOMY":["9606"],"pubmed":["32383811"],"EGA":["EGAC00001001565","EGAS00001004392"]}}