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  1. FHIR Specification Feedback
  2. FHIR-8037

2015May core #1362 - Specify CIGAR format

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium
    • FHIR Core (FHIR)
    • DSTU1
    • Clinical Genomics
    • Observation
    • 4.20.21.1
    • Hide

      We change wording to:

      Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation here.

      Extended CIGAR format – [[number][mutation] ]*

      For example, the CIGAR string 30M1I69M means 30 bases aligning to the reference (30M), 1 base insert (1I), and 69 bases aligning (69M).

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      We change wording to: Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation here . Extended CIGAR format – [ [number] [mutation] ]* For example, the CIGAR string 30M1I69M means 30 bases aligning to the reference (30M), 1 base insert (1I), and 69 bases aligning (69M).
    • Gil Alterovitz/ Grant Wood: 2-0-0
    • Clarification
    • Non-substantive
    • R5

    Description

      Existing Wording: A sequence of of base lengths and the associated operation, used to indicate which bases align (either a match/mismatch) with the reference, are deleted from the reference, and are insertions that are not in the reference. string of observed nucleotides. Observed nucleotides matching the reference are in capital letters. Observed nucleotides not matching the reference are in lower case letters. Use '-' a dash for deleted/missing nucleotides in the observed sequence. Allowable characters are A,T,C,G, a,t,c,g and -.

      Proposed Wording: The CIGAR string of the sequence in extended CIGAR format relative to the reference sequence (Li H, Handsaker B, Wysoker A, et al. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25(16):2078.).

      Comment:

      The name "cigar" and the "base lengths" and "operation" suggest a CIGAR string of some type (whether CIGAR or extended CIGAR is not specified). However, "A, T, C, G, a, t, c, g, and -" suggests an alignment string instead of a CIGAR string. The specific intended format should be specified, please.

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            perry_mar Perry Mar
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              Updated:
              Resolved: