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feat(data-pipeline): add steps for v4 rmc
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2 files changed

+35
-10
lines changed

2 files changed

+35
-10
lines changed

data-pipeline/src/data_pipeline/datasets/gnomad_v2/gnomad_v2_regional_missense_constraint.py

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -1,7 +1,7 @@
11
import hail as hl
22

33

4-
def prepare_gnomad_v2_regional_missense_constraint(path):
4+
def prepare_gnomad_regional_missense_constraint(path):
55
ds = hl.read_table(path)
66

77
# rename key field transcript_id to transcript to allow merging in genes pipeline

data-pipeline/src/data_pipeline/pipelines/genes.py

Lines changed: 34 additions & 9 deletions
Original file line numberDiff line numberDiff line change
@@ -24,7 +24,7 @@
2424
from data_pipeline.datasets.exac.exac_regional_missense_constraint import prepare_exac_regional_missense_constraint
2525
from data_pipeline.datasets.gnomad_v2.gnomad_v2_constraint import prepare_gnomad_v2_constraint
2626
from data_pipeline.datasets.gnomad_v2.gnomad_v2_regional_missense_constraint import (
27-
prepare_gnomad_v2_regional_missense_constraint,
27+
prepare_gnomad_regional_missense_constraint,
2828
)
2929

3030
from data_pipeline.pipelines.variant_cooccurrence_counts import (
@@ -256,6 +256,9 @@
256256
{
257257
"gtex_struct_path": pipeline.get_task("prepare_gtex_v10_expression_data"),
258258
},
259+
{
260+
"exclude_v10_tissues": True,
261+
},
259262
)
260263

261264
pipeline.add_task(
@@ -315,9 +318,20 @@
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316319
pipeline.add_task(
317320
"prepare_gnomad_v2_regional_missense_constraint",
318-
prepare_gnomad_v2_regional_missense_constraint,
321+
prepare_gnomad_regional_missense_constraint,
319322
f"/{constraint_subdir}/gnomad_v2_regional_missense_constraint.ht",
320-
{"path": "gs://gcp-public-data--gnomad/release/2.1.1/regional_missense_constraint/gnomad_v2.1.1_rmc.ht"},
323+
{
324+
"path": "gs://gcp-public-data--gnomad/release/2.1.1/regional_missense_constraint/gnomad_v2.1.1_rmc.ht",
325+
},
326+
)
327+
328+
pipeline.add_task(
329+
"prepare_gnomad_v4_regional_missense_constraint",
330+
prepare_gnomad_regional_missense_constraint,
331+
f"/{constraint_subdir}/gnomad_v4_regional_missense_constraint.ht",
332+
{
333+
"path": "gs://gnomad-v4-data-pipeline/inputs/regional_missense_constraint/rmc_browser.ht",
334+
},
321335
)
322336

323337
###############################################
@@ -377,7 +391,7 @@ def annotate_with_preferred_transcript(table_path):
377391
"exac_constraint": pipeline.get_task("prepare_exac_constraint"),
378392
"exac_regional_missense_constraint": pipeline.get_task("prepare_exac_regional_missense_constraint"),
379393
"gnomad_constraint": pipeline.get_task("prepare_gnomad_v2_constraint"),
380-
"gnomad_v2_regional_missense_constraint": pipeline.get_task("prepare_gnomad_v2_regional_missense_constraint"),
394+
"gnomad_regional_missense_constraint": pipeline.get_task("prepare_gnomad_v2_regional_missense_constraint"),
381395
},
382396
{"join_on": "preferred_transcript_id"},
383397
)
@@ -469,19 +483,30 @@ def annotate_with_constraint(genes_path, constraint_path):
469483

470484
pipeline.add_task(
471485
"annotate_grch38_genes_step_6",
472-
reject_par_y_genes,
486+
annotate_table,
473487
f"/{genes_subdir}/genes_grch38_annotated_6.ht",
474488
{
475-
"genes_path": pipeline.get_task("annotate_grch38_genes_step_5"),
489+
"table_path": pipeline.get_task("annotate_grch38_genes_step_5"),
490+
"gnomad_regional_missense_constraint": pipeline.get_task("prepare_gnomad_v4_regional_missense_constraint"),
491+
},
492+
{"join_on": "preferred_transcript_id"},
493+
)
494+
495+
pipeline.add_task(
496+
"annotate_grch38_genes_step_7",
497+
reject_par_y_genes,
498+
f"/{genes_subdir}/genes_grch38_annotated_7.ht",
499+
{
500+
"genes_path": pipeline.get_task("annotate_grch38_genes_step_6"),
476501
},
477502
)
478503

479504
pipeline.add_task(
480505
"remove_grch38_genes_constraint_for_release",
481506
remove_gnomad_v4_constraint,
482-
f"/{genes_subdir}/genes_grch38_annotate_5_removed_constraint",
507+
f"/{genes_subdir}/genes_grch38_annotate_7_removed_constraint",
483508
{
484-
"genes_path": pipeline.get_task("annotate_grch38_genes_step_5"),
509+
"genes_path": pipeline.get_task("annotate_grch38_genes_step_7"),
485510
},
486511
)
487512

@@ -548,7 +573,7 @@ def annotate_with_constraint(genes_path, constraint_path):
548573
pipeline.set_outputs(
549574
{
550575
"genes_grch37": "annotate_grch37_genes_step_5",
551-
"genes_grch38": "annotate_grch38_genes_step_6",
576+
"genes_grch38": "annotate_grch38_genes_step_7",
552577
"base_transcripts_grch37": "extract_grch37_transcripts",
553578
"base_transcripts_grch38": "extract_grch38_transcripts",
554579
"transcripts_grch37": "annotate_grch37_transcripts",

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