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Mutalyzer Flow

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mihailefter edited this page May 24, 2019 · 1 revision

The user specifies a reference sequence record and a variant using the Name Generator or the Name Checker interface. The Name Generator builds the complete variant description for the Name Checker (e.g., Mutalyzer uses this input to perform the nomenclature check in the following steps:

  1. Retriever: retrieves reference sequence records from the NCBI or LRG websites.

  2. Reference sequence parser: extracts sequence and annotation from reference sequence records.

  3. Syntax Checker: context-free parser using the complete sequence variant description to check whether the syntax is correct according to standard HGVS sequence variant nomenclature .

  4. Name Checker: the core nomenclature checker using the complete sequence variant description to check whether it is correct according to standard HGVS sequence variant nomenclature.

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