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Type:
Change Request
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Resolution: Retracted
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Priority:
Medium
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Genomics Reporting (FHIR)
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STU3
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Clinical Genomics
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(profiles) [deprecated]
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1.1.3
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Correction
Existing Wording: Direct sequencing techniques follow a multistep pathway. The initial phase of a sequencing run produces raw sequence with a qualification of the quality of the raw sequence. The raw sequence is then subject to further computational analysis. In traditional sequencing the product is a single 'read' and the initial step is often the final step. However, in techniques such as next-generation sequencing, the initial step is massively parallel and many 'reads' result. The next phase for massively parallel sequencing techniques is to align the 'reads' to each other and a reference sequence, which acts as a scaffold to aid in assembling 'reads,' in order to create longer, contiguous series of sequences. The next phase for traditional and highly-parallel sequencing techniques is to compare the sequence, or sequence of the assembled 'reads,' to a reference sequence. This comparison produces indientification of variance and quality scores.
Comment:
Don't think we should be going so far. Why not just cite a good reference - there are plenty of over view descriptions at NCBI and Genetic Home Reference.
Summary:
Consider consolidating and using simple NCBI or GHR reference description
- is voted on by
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BALLOT-5485 Negative - Clement McDonald : 2018-May-FHIR IG CG R1
- Retracted