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98be40b5-5141-4ceb-8723-6ddc59a9cda6 - samples

ABSTRACT: 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)

PROVIDER: EGAD00001006090 | EGA |

REPOSITORIES: EGA

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Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.

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

Pediatric blood & cancer 20200508 9

PMID: 32383811

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