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MoCha Oncogenic MOI Annotator - MOMA

The MoCha Oncogenic MOI Annotator (MOMA) utility is a sequencing platform agnostic tool used to annotate variants from a NGS sequencing assay and classify the variants as Mutations of Interest (MOIs) or Variants of Unknown Significance (VuS). These classifications are based on data from annotating the variants with Annovar and mapping them to OncoKB.

In addition, simple filtering is performed on the output data to remove variants that are not clinically relevant. We remove variants that are above a set population frequency as determined from GnomAD, ExAC, and 1000G, as well as non-coding variants and synonymous variants. The remaining calls, then are mapped to OncoKB and the variant's Oncogenicity and Oncogenic Effect annotation is added to the variant call if there is a match.

MOMA is designed to be compatible with VCF files from all NGS platforms either natively or with the addition of a simple helper script to modfy the input to be compatible with the annotation pipeline. MOMA can also run starting from a generic MAF file. In fact, the first steps of the pipeline when starting from a VCF file is to annotate the data and generate a MAF file that the tool will use for downstream processing. As shown below, the spirit of the tool is to be able to accomodate any kind of data, using helper scripts to staget he data in a way that can be easily processed through the rest of the tool.

Installation

Installation details can be found in the documentation PDF file or online at the MOMA Read The Docs Page.

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