Paired Acute Myeloid Leukemia (AML) Epigenetics Study on Epialleles and Clonality

We describe methclone, a novel method to identify epigenetic loci that harbor large changes in the clonality of their epialleles (epigenetic alleles). Methclone efficiently analyzes genome-wide DNA methylation sequencing data. We quantify the changes using a composition entropy difference calculation and also introduce a new measure of global clonality shift, loci with epiallele shift per million loci covered, which enables comparisons between different samples to gauge overall epiallelic dynamics. Finally, we demonstrate the utility of methclone in capturing functional epiallele shifts in leukemia patients from diagnosis to relapse. Methclone is open-source and freely available at https://code.google.com/p/methclone. Reprinted with permission from BMC Publishing (Genome Biology).

• Study Design:
  • Collection
• Study Type:
  • Cohort
• Total number of consented subjects: 17
• Subject Sample Telemetry Report (SSTR)

Those samples where a biological specimen was available at diagnosis and relapse (D vs. R), to enable paired-comparisons, were used.

• Primary Phenotype: Leukemia, Myeloid, Acute
• Leukemia, Biphenotypic, Acute

• BioProject
• PubMed
• Sequence Read Archive
• BioSample
• MeSH
• PMC

• Principal Investigators
  • Christopher Mason. Weill Cornell Medical College, Cornell University, New York, NY, USA.
  • Ari Melnick. Weill Cornell Medical College, Cornell University, New York, NY, USA.
• Funding Source
  • R01HG006798. National Institutes of Health, Bethesda, MD, USA.