Disambiguate

Disambiguate separates sequencing reads from two species in grafted samples by operating on DNA and RNA-seq alignments to enable accurate variant calling and gene expression quantification in mixed-species (e.g., human-mouse) datasets.


Key Features:

  • Species Separation: Processes DNA and RNA-seq alignments to distinguish reads originating from two species, including human-mouse mixtures, with reported high sensitivity and specificity.
  • Recovery of Tumor Signal: Separates mixed-species components to maximize recovery of target tumor reads, improving downstream variant calling and gene expression quantification.
  • Alignment-based Processing: Operates directly on sequencing alignments to assign reads to species-level origin.
  • Implementations: Provided in both Python and C++ implementations for integration into computational pipelines.

Scientific Applications:

  • Grafted-sample analysis: Enables separation of host and graft reads in xenograft and other grafted-sample experiments for accurate genomic and transcriptomic analysis.
  • Preclinical drug-development studies: Supports improved variant detection and expression profiling in preclinical models that combine human tumor and non-human stroma (e.g., human-mouse xenografts).

Methodology:

Processes DNA and RNA-seq alignments from two species to assign reads to species of origin; implementations are available in Python and C++.

Topics

Details

License:
MIT
Tool Type:
command-line tool, library
Programming Languages:
C++, Python
Added:
8/21/2018
Last Updated:
1/13/2019

Operations

Publications

Ahdesmäki MJ, Gray SR, Johnson JH, Lai Z. Disambiguate: An open-source application for disambiguating two species in next generation sequencing data from grafted samples. F1000Research. 2017;5:2741. doi:10.12688/f1000research.10082.2. PMID:27990269. PMCID:PMC5130069.

Links