Description
Count explicitly listed missing research phase-block sites without phasing or clinical variant interpretation.
Pharmacogenomic records distinguish allele labels, copy counts, reference-sequence versions, coordinate systems, and evidence about chromosome phase. A balanced count or matching token can check a record without establishing the underlying genotype. Supplied activity values and interpretation rules remain separate from a current gene-specific clinical guideline.
Count explicitly listed missing research phase-block sites without phasing or clinical variant interpretation.
When to use this tool
Use Phase Block Missing Site Count when you need this specific allele-token, reference-coordinate, copy-budget, or source-support check.
How to use the tool and how it works
- Enter expectedSites, observedSites. Keep parallel arrays aligned. Use the units and conventions below.
- Run the tool. Correct any format, range, or cross-field input error before interpreting the output.
- Read missingCount, missingSites. Use the output convention below.
Return missingSites as distinct expectedSites absent from observedSites, preserving first-occurrence order, and missingCount as that list's length.1
| Input field | Meaning and units | Accepted input |
|---|---|---|
| expectedSites | Expected Sites | Required. Array of text; maximum UTF-16 length 8192; maximum items 256. |
| observedSites | Observed Sites | Required. Array of text; maximum UTF-16 length 8192; maximum items 256. |
| Output field | Interpretation | Returned shape |
|---|---|---|
| missingCount | Missing Count | Required. Safe integer. |
| missingSites | Missing Sites | Required. Array of text; maximum UTF-16 length 8192; maximum items 256. |
{
"input": {
"expectedSites": [
"s1",
"s2"
],
"observedSites": [
"s1"
]
},
"output": {
"missingCount": 1,
"missingSites": [
"s2"
]
}
}Limitations and assumptions
- Site IDs use exact token equality. Unexpected observations are ignored, and coverage, allele state, call quality, and experimental phasing are not established.
- Inputs must satisfy both the field types and the cross-field conditions above. Invalid input causes an error; a successful false flag or documented placeholder is a different result.
Alternative or Complementary methods
Use a current gene-specific nomenclature and a validated interpretation process when allele identity, phase, function, or clinical decisions matter. Verify source versions and reference coordinates before combining records.
References
Similar or alternative tools
- Research Haplotype Phase Block Span
Measure supplied research phase-block coordinates while preserving unknown-block status; no haplotype inference.
- Genotype Call Allele Count
Count supplied allele-call tokens without calling variants, assigning phase or predicting drug response.