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README.md

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Current release

Under development! 🎊

Please also check (probably side branches of):

Old release

Repo organization

  • schemas, yaml sample and configs, includes samples.schema.yaml and config.schema.yaml
  • runs, data getters, config files and accessors for specific runs, e.g. encode, glios, simulations, test
  • snakefiles, snakefiles for different runs

Current runs

  • glios, explores entropies from https://www.ebi.ac.uk/ega/datasets/EGAD00001004074, for which clinical data are available
  • encode, explores the association between entropies and HMM segmentations using data from ENCODE
  • test, uses the methtuple bismark bam testfiles

To do

Implementation

  • Tests
  • Config yaml for multisample handling

Metric

  • Scores: explore alternatives to methylation-standardized entropy
  • Strand specificity, skipped currently

Simulations

  • Simulations based en epiallele diversity
  • Simulations based in DNA meth
  • Simulations based in sequencing depth
  • Simulations based in read length

Use cases

  • Test dataset provided by methtuple
  • HMM cell-line specificity, e.g. enhancer detection
  • RRBS-derived outcome prediction (glioblastomas)

Use cases challenges

  • Confounding with purity/deconvolution of purity
  • ASM
  • CNV

Further capabilities?

  • Differential entropy?
  • Regional differential entropy?

Benchmark

  • Feinberg's matlab
  • Guo et al 2017
  • ?

Global

  • Get a name