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Merge branch 'dev' into dependabot/pip/ipython-8.30.0
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project-defiant authored Dec 16, 2024
2 parents bc47272 + 4820e65 commit 62bc314
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Showing 5 changed files with 20 additions and 317 deletions.
12 changes: 0 additions & 12 deletions docs/python_api/common/version_engine.md

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158 changes: 0 additions & 158 deletions src/gentropy/common/version_engine.py

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30 changes: 18 additions & 12 deletions src/gentropy/config.py
Original file line number Diff line number Diff line change
Expand Up @@ -17,7 +17,8 @@ class SessionConfig:
write_mode: str = "errorifexists"
spark_uri: str = "local[*]"
hail_home: str = os.path.dirname(hail_location)
extended_spark_conf: dict[str, str] | None = field(default_factory=dict[str, str])
extended_spark_conf: dict[str, str] | None = field(
default_factory=dict[str, str])
output_partitions: int = 200
_target_: str = "gentropy.common.session.Session"

Expand All @@ -39,7 +40,8 @@ class ColocalisationConfig(StepConfig):
credible_set_path: str = MISSING
coloc_path: str = MISSING
colocalisation_method: str = MISSING
colocalisation_method_params: dict[str, Any] = field(default_factory=dict[str, Any])
colocalisation_method_params: dict[str, Any] = field(
default_factory=dict[str, Any])
_target_: str = "gentropy.colocalisation.ColocalisationStep"


Expand Down Expand Up @@ -124,7 +126,8 @@ class EqtlCatalogueConfig(StepConfig):
eqtl_catalogue_paths_imported: str = MISSING
eqtl_catalogue_study_index_out: str = MISSING
eqtl_catalogue_credible_sets_out: str = MISSING
mqtl_quantification_methods_blacklist: list[str] = field(default_factory=lambda: [])
mqtl_quantification_methods_blacklist: list[str] = field(
default_factory=lambda: [])
eqtl_lead_pvalue_threshold: float = 1e-3
_target_: str = "gentropy.eqtl_catalogue.EqtlCatalogueStep"

Expand All @@ -146,7 +149,8 @@ class FinngenStudiesConfig(StepConfig):
)
finngen_summary_stats_url_suffix: str = ".gz"
efo_curation_mapping_url: str = "https://raw.githubusercontent.com/opentargets/curation/24.09.1/mappings/disease/manual_string.tsv"
sample_size: int = 453733 # https://www.finngen.fi/en/access_results#:~:text=Total%20sample%20size%3A%C2%A0453%2C733%C2%A0(254%2C618%C2%A0females%20and%C2%A0199%2C115%20males)
# https://www.finngen.fi/en/access_results#:~:text=Total%20sample%20size%3A%C2%A0453%2C733%C2%A0(254%2C618%C2%A0females%20and%C2%A0199%2C115%20males)
sample_size: int = 453733
_target_: str = "gentropy.finngen_studies.FinnGenStudiesStep"


Expand Down Expand Up @@ -199,7 +203,6 @@ class LDIndexConfig(StepConfig):
"nfe", # Non-Finnish European
]
)
use_version_from_input: bool = False
_target_: str = "gentropy.gnomad_ingestion.LDIndexStep"


Expand Down Expand Up @@ -409,7 +412,6 @@ class GnomadVariantConfig(StepConfig):
"remaining", # Other
]
)
use_version_from_input: bool = False
_target_: str = "gentropy.gnomad_ingestion.GnomadVariantIndexStep"


Expand All @@ -432,7 +434,6 @@ class PanUKBBConfig(StepConfig):
"EUR", # European
]
)
use_version_from_input: bool = False
_target_: str = "gentropy.pan_ukb_ingestion.PanUKBBVariantIndexStep"


Expand Down Expand Up @@ -680,7 +681,8 @@ class Config:
"""Application configuration."""

# this is unfortunately verbose due to @dataclass limitations
defaults: List[Any] = field(default_factory=lambda: ["_self_", {"step": MISSING}])
defaults: List[Any] = field(default_factory=lambda: [
"_self_", {"step": MISSING}])
step: StepConfig = MISSING
datasets: dict[str, str] = field(default_factory=dict)

Expand Down Expand Up @@ -714,7 +716,8 @@ def register_config() -> None:
name="gwas_catalog_top_hit_ingestion",
node=GWASCatalogTopHitIngestionConfig,
)
cs.store(group="step", name="ld_based_clumping", node=LDBasedClumpingConfig)
cs.store(group="step", name="ld_based_clumping",
node=LDBasedClumpingConfig)
cs.store(group="step", name="ld_index", node=LDIndexConfig)
cs.store(group="step", name="locus_to_gene", node=LocusToGeneConfig)
cs.store(
Expand All @@ -732,7 +735,8 @@ def register_config() -> None:

cs.store(group="step", name="pics", node=PICSConfig)
cs.store(group="step", name="gnomad_variants", node=GnomadVariantConfig)
cs.store(group="step", name="ukb_ppp_eur_sumstat_preprocess", node=UkbPppEurConfig)
cs.store(group="step", name="ukb_ppp_eur_sumstat_preprocess",
node=UkbPppEurConfig)
cs.store(group="step", name="variant_index", node=VariantIndexConfig)
cs.store(group="step", name="variant_to_vcf", node=ConvertToVcfStepConfig)
cs.store(
Expand Down Expand Up @@ -765,5 +769,7 @@ def register_config() -> None:
name="locus_to_gene_associations",
node=LocusToGeneAssociationsStepConfig,
)
cs.store(group="step", name="finngen_ukb_meta_ingestion", node=FinngenUkbMetaConfig)
cs.store(group="step", name="credible_set_qc", node=CredibleSetQCStepConfig)
cs.store(group="step", name="finngen_ukb_meta_ingestion",
node=FinngenUkbMetaConfig)
cs.store(group="step", name="credible_set_qc",
node=CredibleSetQCStepConfig)
22 changes: 2 additions & 20 deletions src/gentropy/gnomad_ingestion.py
Original file line number Diff line number Diff line change
Expand Up @@ -4,7 +4,6 @@

from gentropy.common.session import Session
from gentropy.common.types import LD_Population, VariantPopulation
from gentropy.common.version_engine import VersionEngine
from gentropy.config import GnomadVariantConfig, LDIndexConfig
from gentropy.datasource.gnomad.ld import GnomADLDMatrix
from gentropy.datasource.gnomad.variants import GnomADVariants
Expand All @@ -26,10 +25,10 @@ def __init__(
min_r2: float = LDIndexConfig().min_r2,
ld_matrix_template: str = LDIndexConfig().ld_matrix_template,
ld_index_raw_template: str = LDIndexConfig().ld_index_raw_template,
ld_populations: list[LD_Population | str] = LDIndexConfig().ld_populations,
ld_populations: list[LD_Population |
str] = LDIndexConfig().ld_populations,
liftover_ht_path: str = LDIndexConfig().liftover_ht_path,
grch37_to_grch38_chain_path: str = LDIndexConfig().grch37_to_grch38_chain_path,
use_version_from_input: bool = LDIndexConfig().use_version_from_input,
) -> None:
"""Run step.
Expand All @@ -42,17 +41,9 @@ def __init__(
ld_populations (list[LD_Population | str]): Population names derived from the ld file paths
liftover_ht_path (str): Path to the liftover ht file
grch37_to_grch38_chain_path (str): Path to the chain file used to lift over the coordinates.
use_version_from_input (bool): Append version derived from input ld_matrix_template to the output ld_index_out. Defaults to False.
In case use_version_from_input is set to True,
data source version inferred from ld_matrix_temolate is appended as the last path segment to the output path.
Default values are provided in LDIndexConfig.
"""
if use_version_from_input:
# amend data source version to output path
ld_index_out = VersionEngine("gnomad").amend_version(
ld_matrix_template, ld_index_out
)
(
GnomADLDMatrix(
ld_matrix_template=ld_matrix_template,
Expand Down Expand Up @@ -84,7 +75,6 @@ def __init__(
gnomad_variant_populations: list[
VariantPopulation | str
] = GnomadVariantConfig().gnomad_variant_populations,
use_version_from_input: bool = GnomadVariantConfig().use_version_from_input,
) -> None:
"""Run Variant Annotation step.
Expand All @@ -93,18 +83,10 @@ def __init__(
variant_annotation_path (str): Path to resulting dataset.
gnomad_genomes_path (str): Path to gnomAD genomes hail table, e.g. `gs://gcp-public-data--gnomad/release/4.0/ht/genomes/gnomad.genomes.v4.0.sites.ht/`.
gnomad_variant_populations (list[VariantPopulation | str]): List of populations to include.
use_version_from_input (bool): Append version derived from input gnomad_genomes_path to the output variant_annotation_path. Defaults to False.
In case use_version_from_input is set to True,
data source version inferred from gnomad_genomes_path is appended as the last path segment to the output path.
All defaults are stored in the GnomadVariantConfig.
"""
# amend data source version to output path
if use_version_from_input:
variant_annotation_path = VersionEngine("gnomad").amend_version(
gnomad_genomes_path, variant_annotation_path
)

session.logger.info("Gnomad variant annotation path:")
session.logger.info(variant_annotation_path)
# Parse variant info from source.
Expand Down
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