Study
Genomic study of an AT-AML
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001004392 | Other |
Study Description
Ataxia Telangiectasia (A-T) is caused by biallelic mutations in ATM and confers predisposition to cancer, with acute myeloid leukaemia (AML) being rarely observed. We investigated an AML arising in an A-T patient for secondary genetic events by performing whole exome sequencing of serial samples over the disease course. AML samples were compared to a reference "germline" sample from a much earlier time point. Goldgraben et al 2020, Pediatric Blood & Cancer
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001006090 |
Serial samples from one AT-AML patient as described in publication Goldgraben et al Pediatric Blood & Cancer 2020.
Whole 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.
Provided: 5 BAM files (GRCh37); 2 VCF analyses (germline and somatic)
|
Illumina HiSeq 4000 | 5 |
Who archives the data?
Publications
Citations
Retrieving...
Retrieving...
