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Type:
Change Request
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Resolution: Persuasive
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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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Clem / Bob F: 10-0-1
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Correction
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Non-substantive
Existing wording: 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.
Proposed wording: The next phase for massively parallel sequencing of human DNA is to align the 'reads' to a reference sequence. From there, the aligned reads are compared to the reference sequence for variations. Different variant calling algorithms produce different results, and the quality of variant calling can be measured by comparison against a gold standard.
Rationale: Existing wording confuses the notions of "assembly"and "alignment". Assembly is used when there is no reference sequence. Alignment is used for human DNA sequencing, where there is a reference sequence.
- is voted on by
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BALLOT-5446 Affirmative - Bob Dolin : 2018-May-FHIR IG CG R1
- Closed