Molecular profiling of MBD4-deficient acute myeloid leukaemia
|Study ID||Alternative Stable ID||Type|
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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|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|
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MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML.
Blood 132:2018 1526-1534