feat: integrating PanelApp download for annonars (#79)

Snakefile

@@ -349,6 +349,7 @@ include: "rules/work/genes/hgnc.smk"
 include: "rules/work/genes/mehari_data_tx.smk"
 include: "rules/work/genes/ncbi.smk"
 include: "rules/work/genes/omim.smk"
+include: "rules/work/genes/panelapp.smk"
 include: "rules/work/genes/orphapacket.smk"
 include: "rules/work/genes/rcnv.smk"
 include: "rules/work/genes/shet.smk"

download_urls.yml

@@ -1,3 +1,16 @@
+- url: https://panelapp.genomicsengland.co.uk/api/v1/entities/
+  excerpt_strategy:
+    strategy: no-excerpt
+    count: null
+- url: https://panelapp.genomicsengland.co.uk/api/v1/entities/?page=2
+  excerpt_strategy:
+    strategy: no-excerpt
+    count: null
+- url: https://panelapp.genomicsengland.co.uk/api/v1/entities/?page=3
+  excerpt_strategy:
+    strategy: no-excerpt
+    count: null
+
 # dbNSFP v4.5a
 - url: https://dbnsfp.s3.amazonaws.com/dbNSFP4.5a.zip
   excerpt_strategy:
@@ -78,12 +91,12 @@
 - url: ftp://ftp.clinicalgenome.org/ClinGen_gene_curation_list_GRCh37.tsv
 - url: ftp://ftp.clinicalgenome.org/ClinGen_gene_curation_list_GRCh38.tsv
 
-- url: https://storage.cloud.google.com/adult-gtex/bulk-gex/v8/rna-seq/GTEx_Analysis_v8_Annotations_SampleAttributesDS.txt
+- url: https://storage.googleapis.com/adult-gtex/annotations/v8/metadata-files/GTEx_Analysis_v8_Annotations_SampleAttributesDS.txt
   excerpt_strategy:
     strategy: no-excerpt
     count: null
 
-- url: https://storage.cloud.google.com/adult-gtex/bulk-gex/v8/rna-seq/GTEx_Analysis_2017-06-05_v8_RNASeQCv1.1.9_gene_tpm.gct.gz
+- url: https://storage.googleapis.com/adult-gtex/bulk-gex/v8/rna-seq/GTEx_Analysis_2017-06-05_v8_RNASeQCv1.1.9_gene_tpm.gct.gz
   excerpt_strategy:
     strategy: manual
     count: null

environment.yml

@@ -41,7 +41,7 @@ dependencies:
   # Parallel (de)compression.
   - pigz
   # Varfish related
-  - annonars =0.32.0
+  - annonars =0.33.0
   - viguno =0.2.0
   - mehari =0.21.1
   - varfish-server-worker =0.10.2

rules/output/annonars/genes.smk

@@ -12,6 +12,7 @@ rule output_annonars_genes:  # -- build annonars genes RocksDB file
         ncbi="work/genes/entrez/{date}/gene_info.jsonl",
         omim="work/genes/omim/{v_hpo}+{date}/omim_diseases.tsv",
         orpha="work/genes/orphapacket/{v_orpha}+{date}/orpha_diseases.tsv",
+        panelapp="work/download/genes/panelapp/{date}/panelapp.jsonl",
         rcnv="work/genes/rcnv/2022/rcnv_collins_2022.tsv",
         shet="work/genes/shet/2019/shet_weghorn_2019.tsv",
         gtex="work/genes/annonars/gtex_v8/genes_tpm.jsonl.gz",
@@ -44,6 +45,7 @@ rule output_annonars_genes:  # -- build annonars genes RocksDB file
             --path-in-hgnc {input.hgnc} \
             --path-in-omim {input.omim} \
             --path-in-orpha {input.orpha} \
+            --path-in-panelapp {input.panelapp} \
             --path-in-ncbi {input.ncbi} \
             --path-in-rcnv {input.rcnv} \
             --path-in-shet {input.shet} \

rules/work/genes/gtex.smk

@@ -34,11 +34,11 @@ rule genes_gtex_v8_download:  # -- download GTex v8 gene expression data
         r"""
         wget --no-check-certificate \
             -O {output.attributes} \
-            https://storage.cloud.google.com/adult-gtex/bulk-gex/v8/rna-seq/GTEx_Analysis_v8_Annotations_SampleAttributesDS.txt
+            https://storage.googleapis.com/adult-gtex/annotations/v8/metadata-files/GTEx_Analysis_v8_Annotations_SampleAttributesDS.txt
 
         wget --no-check-certificate \
             -O {output.genes_tpm} \
-            https://storage.cloud.google.com/adult-gtex/bulk-gex/v8/rna-seq/GTEx_Analysis_2017-06-05_v8_RNASeQCv1.1.9_gene_tpm.gct.gz
+            https://storage.googleapis.com/adult-gtex/bulk-gex/v8/rna-seq/GTEx_Analysis_2017-06-05_v8_RNASeQCv1.1.9_gene_tpm.gct.gz
 
         md5sum {output.attributes} > {output.attributes_md5}
         md5sum {output.genes_tpm} > {output.genes_tpm_md5}

rules/work/genes/panelapp.smk

@@ -0,0 +1,43 @@
+## Rules related to AlphaMissense per-gene scores
+
+
+import os
+import subprocess
+import sys
+import tempfile
+
+
+rule genes_panelapp_download:  # -- download AlphaMissense per-gene scores
+    output:
+        jsonl="work/download/genes/panelapp/{date}/panelapp.jsonl",
+    run:
+        base_url = "https://panelapp.genomicsengland.co.uk/api/v1"
+
+        pages = []
+        page_no = 1
+        page_count = None
+        url = f"{base_url}/entities/"
+        with tempfile.TemporaryDirectory() as tmpdir:
+            while url:
+                print(
+                    f"downloading page {page_no}/{page_count if page_count else '?'}...",
+                    file=sys.stderr,
+                )
+                subprocess.check_call(["wget", "-O", f"{tmpdir}/page.json", url])
+                with open(f"{tmpdir}/page.json", "rt") as f:
+                    page = json.load(f)
+                pages.append(page)
+                url = page.get("next")
+                page_no += 1
+                if not page_count:
+                    per_page = len(page.get("results", [None]))
+                    page_count = (page.get("count") + per_page - 1) // per_page
+                if os.environ.get("CI", None) == "true" and page_no > 2:
+                    print("CI mode: only downloading first 2 pages", file=sys.stderr)
+                    break
+
+        os.makedirs(f"work/download/genes/panelapp/{wildcards.date}", exist_ok=True)
+        with open(output.jsonl, "wt") as f:
+            for page in pages:
+                for result in page.get("results", []):
+                    print(json.dumps(result), file=f)

varfish_db_downloader/wget.py

@@ -250,4 +250,7 @@ def copy_excerpt(url: UrlEntry, data_dir: str, output_document: str):
     basename = parsed.path.split("/")[-1]
     excerpt_path = in_path / basename
     click.echo(err=True, message="copying {} => {}".format(excerpt_path, output_document))
-    shutil.copy(excerpt_path, output_document)
+    if os.path.isdir(excerpt_path):
+        shutil.copy(f"{excerpt_path}/__index__", output_document)
+    else:
+        shutil.copy(excerpt_path, output_document)