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cae7f1e
Clean up TODO asking to write phenopackets to a folder
VarenyaJ Aug 5, 2025
01be17c
Clean TODO for downloading an HPO JSON file from the Monarch repo
VarenyaJ Aug 5, 2025
206e414
Clean up TODO for VariationDescriptor and gene_context, and remove TO…
VarenyaJ Aug 5, 2025
021b19f
Rearrange the mapper
VarenyaJ Aug 5, 2025
ce93fc1
Check that the sheet has raw coordinates or some other notation, and …
VarenyaJ Aug 5, 2025
308511c
Fix typo and ruff format
VarenyaJ Aug 5, 2025
2473094
feat(cli): add `audit-excel` command and expand preprocessing tests
VarenyaJ Aug 5, 2025
7e6cf2e
Ruff formatting
VarenyaJ Aug 5, 2025
e85b4b3
Augment README
VarenyaJ Aug 5, 2025
9744ee9
Create new files for optional categories to fill out Phenopacket Schema
VarenyaJ Aug 7, 2025
bb73625
Start to implement parsing of optional sheets to further fill out the…
VarenyaJ Aug 7, 2025
55a9c5c
Write a test for the new disease, measurements, and biosample impleme…
VarenyaJ Aug 7, 2025
30081c8
Fix indentation errors :(
VarenyaJ Aug 7, 2025
15d45b2
unpack & group all five lists in __main__.py
VarenyaJ Aug 7, 2025
4a471b9
Correct typos
VarenyaJ Aug 7, 2025
b42ee16
Adjust indentation of the for loop
VarenyaJ Aug 7, 2025
94d3424
Adjust indentation
VarenyaJ Aug 7, 2025
3834c43
Adjust fixture since the CLI is expecting a PATH as a string
VarenyaJ Aug 7, 2025
86028e0
Add TODO
VarenyaJ Aug 7, 2025
86761a1
Adjust TODOs and initiate Ruff formatting;
VarenyaJ Aug 7, 2025
33695a0
Remove manual decompression of HPO JSON files - leave that for hpotk
VarenyaJ Aug 8, 2025
bfeb879
ruff checking
VarenyaJ Aug 8, 2025
c262f18
Start to refactor to have apply_mapping return list[Phenopacket] (pr…
VarenyaJ Aug 8, 2025
b8ff573
ruff format
VarenyaJ Aug 8, 2025
4a764e2
Continue to refactor to have apply_mapping return list[Phenopacket] …
VarenyaJ Aug 8, 2025
95e861f
Clarify input by standardized sheet names via TypedTables
VarenyaJ Aug 8, 2025
ca759ae
Attempt to split apply_mapping into small row-by-row helpers
VarenyaJ Aug 8, 2025
e37930f
Split into a row-level helper and call it in the table wrapper
VarenyaJ Aug 8, 2025
ef2a70b
refactor(mapper): attempt to restructure DefaultMapper into modular, …
VarenyaJ Aug 11, 2025
a72e84a
refactor(cli, mapper): align CLI with new DefaultMapper API and prese…
VarenyaJ Aug 11, 2025
d4f5dd6
Ruff check and formatting
VarenyaJ Aug 11, 2025
5c79279
Have the CLI be forgiving (accept `16` and normalize to `chr16`) by a…
VarenyaJ Aug 11, 2025
9478eae
Revise the CLI forgiveness for chromosome entry
VarenyaJ Aug 11, 2025
81b46e5
fix(mapper): emit canonical HGVS without optional 'chr' prefix
VarenyaJ Aug 11, 2025
76882fa
tests: draft focused unit tests for mapper & main helpers; adjust HGV…
VarenyaJ Aug 11, 2025
98c5c71
refactor(mapper): split `construct_phenopacket_for_patient` into help…
VarenyaJ Aug 11, 2025
3fd26fa
Merge pull request #10 from VarenyaJ/refactor/mapper-returns-phenopac…
VarenyaJ Aug 15, 2025
6bdcd26
Add description from
VarenyaJ Aug 15, 2025
a3540a8
Merge pull request #14 from VarenyaJ/feature/short-readme-description
VarenyaJ Aug 15, 2025
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43 changes: 36 additions & 7 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -10,10 +10,12 @@ A simple, extensible CLI for downloading the Human Phenotype Ontology, parsing g
3. [Installation](#installation)
4. [Quickstart](#quickstart)
- [Download HPO JSON](#download-hpo-json)
- [Parse Excel to Phenopackets](#parse-excel-to-phenopackets)
- [Parse Excel to Phenopackets](#parse-excel-to-phenopackets)
- [Audit Excel Workbooks](#audit-excel-workbooks)
5. [CLI Reference](#cli-reference)
- [`p6 download`](#p6-download)
- [`p6 parse-excel`](#p6-parse-excel)
- [`p6 audit-excel`](#p6-audit-excel)
6. [Development & Testing](#development--testing)
7. [Contributing](#contributing)
8. [License](#license)
Expand Down Expand Up @@ -94,18 +96,32 @@ Resulting phenopacket files will be under:
phenopacket_from_excel/$(date "+%Y-%m-%d_%H-%M-%S")/phenopackets/
```

### Audit Excel Workbooks

Quickly check each sheet in an Excel file for header normalization, sheet classification, and presence of required variant columns.
```bash
p6 audit-excel -e tests/data/Sydney_Python_transformation.xlsx
```

By default you get a table; use `-r` for a JSON output to the console.
```bash
p6 audit-excel -e tests/data/Sydney_Python_transformation.xlsx -r
```

## CLI Reference

### p6 download

Usage:
```markdown
p6 download [OPTIONS]
```

Options:
-d, --data-path PATH where to save HPO JSON (default: tests/data)
-v, --hpo-version TEXT exact HPO release tag (e.g. 2025-03-03 or v2025-03-03)
--help Show this help message and exit.
```markdown
-d, --data-path PATH where to save HPO JSON (default: tests/data)
-v, --hpo-version TEXT exact HPO release tag (e.g. 2025-03-03 or v2025-03-03)
--help Show this help message and exit.
```

Examples:
Expand All @@ -130,9 +146,9 @@ Usage: `p6 parse-excel [OPTIONS] EXCEL_FILE`

Options:
```markdown
-e, --excel-path FILE path to the Excel workbook [required]
-hpo, --custom-hpo FILE path to a custom HPO JSON file (defaults to `tests/data/hp.json`)
--help Show this message and exit.
-e, --excel-path FILE path to the Excel workbook [required]
-hpo, --custom-hpo FILE path to a custom HPO JSON file (defaults to `tests/data/hp.json`)
--help Show this message and exit.
```

Example:
Expand All @@ -142,6 +158,19 @@ Explicitly point at a custom HPO file:
p6 parse-excel -e tests/data/Sydney_Python_transformation.xlsx -hpo src/P6/hp.json
```

### p6 audit-excel

Run a lightweight audit on each sheet in an Excel workbook, reporting header counts, sheet classification, and missing variant‐column checks.

Usage: `p6 audit-excel [OPTIONS] EXCEL_FILE`

Options:
```markdown
-e, --excel-path FILE path to the Excel workbook [required]
-r, --report-json output audit report as JSON instead of table
--help Show this message and exit.
```

## Development & Testing

Install dev requirements:
Expand Down
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