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Allele-specific copy number estimation with whole genome sequencing

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ACEseq Workflow

Original Author: Kortine Kleinheinz [email protected]

Current Author: Gregor Warsow [email protected]

Description

ACEseq (Allele-specific copy number estimation with whole genome sequencing) is a tool to estimate allele-specific copy numbers from WGS data and comes along with a variety of features:

  • GC/replication timing Bias correction
  • quality check
  • SV breakpoint inclusion
  • automated estimation of ploidy and tumor cell content
  • HRD/TAI/LST score estimation
  • with/without matched control processing

Prepackaged files

The complete installation instructions can be found in the documentation.

Further required software and plugins

Additional necessary software like e.g. Roddy can be found here

Support us (indirectly)

de.NBI logoYour opinion matters! The development of this workflow is supported by the German Network for Bioinformatic Infrastructure (de.NBI). By completing this very short (30-60 seconds) survey you support our efforts to improve this tool.

Citations

Kortine Kleinheinz, Isabell Bludau, Daniel Huebschmann, Michael Heinold, Philip Kensche, Zuguang Gu, Cristina Lopez, Michael Hummel, Wolfram Klapper, Peter Moeller, Inga Vater, Rabea Wagener, ICGC MMML-Seq project, Benedikt Brors, Reiner Siebert, Roland Eils, Matthias Schlesner. ACEseq - allele specific copy number estimation from whole genome sequencing. biorxiv.

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