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fix(docs): remove efo code references (#636)
close #630
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-6
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4 files changed

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docs/hgvs_dup_del_mode.md

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -9,7 +9,7 @@ The mode can be set to `default`, `copy_number_count`, `copy_number_change`, or
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- if baseline_copies is not set and endpoints are ambiguous:
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- copy_number_change
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- if copy_change not provided:
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- copy_change = `efo:0030067` (loss) if del, `efo:0030070` (gain) if dup
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- copy_change = "loss" if del, "gain" if dup
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- elif baseline_copies is provided:
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- copy_number_count
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- copies are baseline_copies + 1 for dup, baseline_copies - 1 for del

src/variation/hgvs_dup_del_mode.py

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@@ -57,7 +57,7 @@ def default_mode(
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"""Use default characteristics to return a variation.
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If baseline_copies not provided and endpoints are ambiguous - copy_number_change
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if copy_change not provided:
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copy_change - `efo:0030067` (loss) if del, `efo:0030070` (gain) if dup
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copy_change - "loss" if del, "gain" if dup
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elif baseline_copies provided: copy_number_count
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copies are baseline + 1 for dup, baseline - 1 for del
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else

src/variation/schemas/copy_number_schema.py

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -307,7 +307,7 @@ def validate_fields(cls, v: dict) -> dict:
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"accession": None,
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"start0": 10001,
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"end0": 1223133,
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"copy_change": "efo:0030069",
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"copy_change": "complete genomic loss",
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"start_pos_type": "number",
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"end_pos_type": "number",
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"start1": None,

tests/to_copy_number_variation/test_hgvs_to_copy_number.py

Lines changed: 1 addition & 3 deletions
Original file line numberDiff line numberDiff line change
@@ -1213,8 +1213,6 @@ async def test_invalid_cnv(test_cnv_handler):
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"NC_000018.9:g.(48556994_48573289)_48573471dup",
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"NC_000018.9:g.48556994_(48573289_48573471)dup",
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]:
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resp = await test_cnv_handler.hgvs_to_copy_number_change(
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q, copy_change="efo:0030070"
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)
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resp = await test_cnv_handler.hgvs_to_copy_number_change(q, copy_change="gain")
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assert resp.warnings == [f"Unable to find classification for: {q}"], q
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assert resp.copy_number_change is None, q

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