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Moved outstanding exp-func-imp PR into this PR with latest reorg #215

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8d153e7
Moved outstanding exp-func-imp PR into this PR with latest reorg of f…
larrybabb Nov 7, 2024
b5ea9f6
updates from nov.07.2024 gks-tech sync with MB/AW/LB
larrybabb Nov 7, 2024
6d65bfa
removed notes file
larrybabb Nov 7, 2024
ff1834b
Completed converting pre-existing AVE test cases with new ExpVarFuncI…
larrybabb Nov 8, 2024
85acefb
reverted premature`trial use` maturity values to `draft`
larrybabb Nov 8, 2024
19f0cdb
Rename pathogenicity-evidenceline-profile-source.yaml to pathogenicit…
mbrush Nov 8, 2024
a793e50
Update experimental-functional-impact-study-statement-profile-source.…
mbrush Nov 8, 2024
7b5072c
Update pathogenicity-evidence-line-profile-source.yaml
mbrush Nov 8, 2024
0bc8f82
rebuild rst
ahwagner Nov 9, 2024
e98bda5
resolves conflicting definition of evidence line property
ahwagner Nov 9, 2024
8a99ff4
update build with newer MSP
ahwagner Nov 9, 2024
cd79c0f
update fixtures to new mappable concept
ahwagner Nov 9, 2024
6e170b3
add support for namespaced tests
ahwagner Nov 10, 2024
44206a5
Merge branch '1.x' into func-impact-for-review
ahwagner Nov 10, 2024
e2f87ea
fix documentation refs for statement profiles
ahwagner Nov 10, 2024
c8d15c9
reorg documentation for base and community profiles
ahwagner Nov 10, 2024
89d4e5c
draft solution to ga4gh/gks-metaschema#35
ahwagner Nov 10, 2024
62a9647
Replace Stmt SPOQ attribs with Proposition.
larrybabb Nov 12, 2024
af94fe3
add back lost proposal from AHW on community docs
larrybabb Nov 12, 2024
6fcbfef
draft changes to acmg-2015 func-imp-evid-line
larrybabb Nov 12, 2024
c7a1ef1
clean schema folders
larrybabb Nov 12, 2024
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2 changes: 1 addition & 1 deletion .requirements.txt
Original file line number Diff line number Diff line change
Expand Up @@ -2,7 +2,7 @@ pytest
sphinx ~= 7.2
sphinx-rtd-theme ~= 1.3
pyyaml
ga4gh.gks.metaschema==0.3.0b14
ga4gh.gks.metaschema==0.3.0b16
jsonschema
referencing
jupyterlab
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16 changes: 12 additions & 4 deletions schema/Makefile
Original file line number Diff line number Diff line change
@@ -1,7 +1,15 @@
all: va-base
all: base-all acmg-2015-all

va-base:
clean: base-clean acmg-2015-clean

base-all:
(cd va-spec/base; make all)

clean:
(cd va-spec/base; make clean)
acmg-2015-all:
(cd va-spec/acmg-2015; make all)

base-clean:
(cd va-spec/base; make clean)

acmg-2015-clean:
(cd va-spec/acmg-2015; make clean)
44 changes: 44 additions & 0 deletions schema/va-spec/acmg-2015/Makefile
Original file line number Diff line number Diff line change
@@ -0,0 +1,44 @@
.SECONDARY:
.DELETE_ON_ERROR:

BUILD_DIR := build
DEF_DIR := def
JSON_DIR := json
IMPORT_DIR := import

vpath %tag $(BUILD_DIR)
vpath %.classes $(BUILD_DIR)

SOURCES := $(wildcard *-source.yaml)
TAGS := $(SOURCES:-source.yaml=.tag)
IMPORTS := $(wildcard $(IMPORT_DIR)/*-source.yaml)

all: build-ordered ${TAGS} prune-tag

build-ordered: | $(BUILD_DIR)

$(BUILD_DIR):
mkdir $(BUILD_DIR)

%.tag: %.classes %.json-tag %.defs-tag
touch $(BUILD_DIR)/$@

%.classes: %-source.yaml
source2classes $< >${BUILD_DIR}/$@

%.json-tag: %-source.yaml ${IMPORTS}
source2splitjs $<
touch $(BUILD_DIR)/$@

%.defs-tag: %-source.yaml ${IMPORTS}
y2t $<
touch $(BUILD_DIR)/$@

prune-tag: ${TAGS}
$(MAKE) -f prune.mk
touch $(BUILD_DIR)/$@

clean:
rm $(BUILD_DIR)/*
rm $(DEF_DIR)/*
rm $(JSON_DIR)/*
22 changes: 22 additions & 0 deletions schema/va-spec/acmg-2015/def/VariantPathogenicityStatement.rst
Original file line number Diff line number Diff line change
@@ -0,0 +1,22 @@
.. warning:: This data class is at a **draft** maturity level and may change
significantly in future releases. Maturity levels are described in
the :ref:`maturity-model`.

**Computational Definition**

A Statement describing the role of a variant in causing an inherited condition.

**Information Model**


.. list-table::
:class: clean-wrap
:header-rows: 1
:align: left
:widths: auto

* - Field
- Flags
- Type
- Limits
- Description
19 changes: 19 additions & 0 deletions schema/va-spec/acmg-2015/json/VariantPathogenicityStatement
Original file line number Diff line number Diff line change
@@ -0,0 +1,19 @@
{
"$schema": "https://json-schema.org/draft/2020-12/schema",
"$id": "https://w3id.org/ga4gh/schema/va-spec/1.x/acmg-2015/json/VariantPathogenicityStatement",
"title": "VariantPathogenicityStatement",
"maturity": "draft",
"description": "A Statement describing the role of a variant in causing an inherited condition.",
"allOf": [
{
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/VariantPathogenicityStatement"
},
{
"properties": {
"classification": {
"description": "The ACMG 2015 classification of the variant's pathogenicity."
}
}
}
]
}
Original file line number Diff line number Diff line change
@@ -0,0 +1,32 @@
$schema: "https://json-schema.org/draft/2020-12/schema"
$id: "https://w3id.org/ga4gh/schema/va-spec/1.x/acmg-2015/pathogenicity-statement-profile-source.yaml"
title: ACMG 2015 Variant Pathogenicity Statement Standard Profile
strict: true

imports:
va-spec: ../base/pathogenicity-statement-profile-source.yaml
cat-vrs: ../../cat-vrs/cat-vrs-source.yaml
vrs: ../../vrs/vrs-source.yaml
gks-core: ../../gks-core/gks-core-source.yaml

$defs:
VariantPathogenicityStatement:
maturity: draft
description: >-
A Statement describing the role of a variant in causing an inherited condition.
allOf:
- $ref: "/ga4gh/schema/va-spec/1.x/base/VariantPathogenicityStatement"
- properties:
classification:
# this is a MappableConcept but we would ideally like to specify a value set with meta characteristics to validate with some consistency
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# type: string
# enum:
# - pathogenic
# - likely pathogenic
# - uncertain significance
# - likely benign
# - benign
description: >-
The ACMG 2015 classification of the variant's pathogenicity.


11 changes: 11 additions & 0 deletions schema/va-spec/acmg-2015/prune.mk
Original file line number Diff line number Diff line change
@@ -0,0 +1,11 @@
BUILD_DIR := build
SOURCES := $(wildcard *-source.yaml)
CLASS_FILTER_FILES = $(SOURCES:%-source.yaml=${BUILD_DIR}/%.classes)
FILTER_CLASSES := $(shell cat ${CLASS_FILTER_FILES})
FILTER_JSONS = $(FILTER_CLASSES:%=json/%)
FILTER_DEFS = $(FILTER_CLASSES:%=def/%.rst)

.DEFAULT: prune

prune: $(filter-out ${FILTER_JSONS} ${FILTER_DEFS},$(wildcard def/* json/*))
$(if $^,rm $^)
151 changes: 0 additions & 151 deletions schema/va-spec/base/assay-var-effect-source.yaml

This file was deleted.

Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
$schema: "https://json-schema.org/draft/2020-12/schema"
$id: "https://w3id.org/ga4gh/schema/va-spec/1.x/base/caf-study-result-source.yaml"
$id: "https://w3id.org/ga4gh/schema/va-spec/1.x/base/cohort-allele-frequency-study-result-profile-source.yaml"
title: Cohort Allele Frequency Study Result Standard Profile
strict: true

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