Study

Molecular profiling of MBD4-deficient acute myeloid leukaemia

Study ID Alternative Stable ID Type
EGAS00001002581 Other

Study Description

We describe two cases of MBD4-deficient acute myeloid leukaemia (AML). Clinical samples were used for molecular analysis, including genomic profiling (genome and exomes), methylation analysis (RRBS) and transcriptional profiling (RNA-sequencing). An analysis and methodological description has been published: “MBD4 guards against methylation damage and germline deficiency predisposes to clonal hematopoiesis and early-onset AML” [PMID: 30049810]

Study Datasets 4 dataset.

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Dataset ID Description Technology Samples
EGAD00001003567 Reduced Representation Bisulfite Sequencing for WEHI-AML-1 and WEHI-AML-2. RRBS libraries were made with the NuGEN Ovation RRBS Methyl-Seq System. Bisulfite conversion was performed with the Qiagen Epitect kit. Sequencing was performed on an Illumina HiSeq2500. 7
EGAD00001003568 Genome sequencing at diagnosis and post induction for WEHI-AML-1 and WEHI-AML-2. Whole genome sequencing was performed on an Illumina HiSeq X Ten. 4
EGAD00001003569 Transcriptome sequencing for WEHI-AML-1 and WEHI-AML-2. RNA libraries were generated using the Illumina TruSeq RNA Sample Preparation Kit v2 and sequenced on an Illumina HiSeq2500. 9
EGAD00001003570 Exome sequencing for WEHI-AML-1 and WEHI-AML-2. Exome capture was performed with the Human All Exon v5_UTR Capture Library and the Agilent Technologies SureSelectXT2 Target Enrichment System, with sequencing on an Illumina HiSeq2500. 9

Who archives the data?

Publications

Publications Citations
MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML.
Blood 132:2018 1526-1534
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