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  1. NIF
  2. NIF-11790

Genetic Testing Registry data ingest

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    • NIF
    • Issues closed as MONARCH has transitioned from UCSD services

    Description

      The Genetic Testing Registry at NCBI has a number of genetic tests that are related to diseases/phenotypes and specific types of genetic changes.

      A few sample records:
      http://www.ncbi.nlm.nih.gov/gtr/tests/500324/#_methodology

      • shows Gene (Cytogenetic Location), HGVS Designation, Identifier, Protein Name, and is of the type "T" for targeted mutation analysis.

      This one
      http://www.ncbi.nlm.nih.gov/gtr/tests/500318/#_methodology
      is of type "D" for deletion/duplication analysis.

      The full list of tests for browsing is here:
      http://www.ncbi.nlm.nih.gov/gtr/tests/?term=%22src%20gtr%22%5BProperties%5D

      The full list of assay types are as follows (we should be able to support these in some fashion):

      Biochemical Genetics (43)
      Analyte (38)
      Enzyme assay (4)
      Immunohistochemistry (4)
      Cytogenetics (35)
      Chromosome breakage studies (1)
      FISH-interphase (5)
      FISH-metaphase (33)
      Molecular Genetics (1088)
      Sequence analysis of the entire coding region (819)
      Deletion/duplication analysis (274)
      Sequence analysis of select exons (41)
      Linkage analysis (28)
      Methylation analysis (25)
      Mutation scanning of the entire coding region (8)
      Mutation scanning of select exons (1)
      Targeted mutation analysis (153)
      Uniparental disomy study (UPD) (13)

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            nlw Nicole Washington
            mhaendel Melissa Haendel
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              Updated:
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