"ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_35/gencode.v35.annotation.gtf.gz",
"/external_sources/gencode.v35.gtf.gz",
)
pipeline.add_download_task(
"download_hgnc_names",
"https://www.genenames.org/cgi-bin/download/custom?col=gd_hgnc_id&col=gd_app_sym&col=gd_app_name&col=gd_prev_sym&col=gd_aliases&col=gd_pub_ensembl_id&col=md_ensembl_id&col=md_mim_id&status=Approved&hgnc_dbtag=on&order_by=gd_app_sym_sort&format=text&submit=submit",
"/external_sources/hgnc.tsv",
)
pipeline.add_task(
"prepare_grch37_genes",
prepare_genes,
"/genes/genes_grch37_base.ht",
{
"gencode_path": pipeline.get_task("download_gencode_v19_gtf"),
"hgnc_path": pipeline.get_task("download_hgnc_names"),
},
{"reference_genome": "GRCh37"},
)
pipeline.add_task(
"prepare_grch38_genes",
prepare_genes,
"/genes/genes_grch38_base.ht",
{
"gencode_path": pipeline.get_task("download_gencode_v35_gtf"),
"hgnc_path": pipeline.get_task("download_hgnc_names"),
},
{"reference_genome": "GRCh38"},
)
"download_mnvs",
"https://storage.googleapis.com/gnomad-public/release/2.1/mnv/gnomad_mnv_coding_v0.tsv",
"/gnomad_v2/gnomad_mnv_coding_v0.tsv",
)
pipeline.add_download_task(
"download_3bp_mnvs",
"https://storage.googleapis.com/gnomad-public/release/2.1/mnv/gnomad_mnv_coding_3bp_fullannotation.tsv",
"/gnomad_v2/gnomad_mnv_coding_3bp_fullannotation.tsv",
)
pipeline.add_task(
"replace_mnv_quote_char",
replace_quote_char,
"/gnomad_v2/gnomad_mnv_coding_v0-quoted.tsv",
{"path": pipeline.get_task("download_mnvs")},
)
pipeline.add_task(
"replace_3bp_mnv_quote_char",
replace_quote_char,
"/gnomad_v2/gnomad_mnv_coding_3bp_fullannotation-quoted.tsv",
{"path": pipeline.get_task("download_3bp_mnvs")},
)
pipeline.add_task(
"prepare_gnomad_v2_mnvs",
prepare_gnomad_v2_mnvs,
"/gnomad_v2/gnomad_v2_mnvs.ht",
{
"mnvs_path": pipeline.get_task("replace_mnv_quote_char"),
pipeline.add_task(
"import_exac_vcf",
import_exac_vcf,
"/exac/exac_variants.ht",
{
"path":
"gs://gnomad-public/legacy/exac_browser/ExAC.r1.sites.vep.vcf.gz"
},
)
pipeline.add_task(
"annotate_exac_transcript_consequences",
annotate_transcript_consequences,
"/exac/exac_variants_annotated_1.ht",
{
"variants_path": pipeline.get_task("import_exac_vcf"),
"transcripts_path":
genes_pipeline.get_task("extract_grch37_transcripts"),
},
)
###############################################
# Coverage
###############################################
pipeline.add_task(
"import_exac_coverage",
import_exac_coverage,
"/exac/exac_coverage.ht",
)
from data_pipeline.pipelines.genes import pipeline as genes_pipeline
pipeline = Pipeline()
pipeline.add_download_task(
"download_clinvar_grch38_vcf",
"ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar.vcf.gz",
"/external_sources/clinvar_grch38.vcf.gz",
)
pipeline.add_task(
"prepare_clinvar_grch38_variants",
prepare_clinvar_variants,
"/clinvar/clinvar_grch38_base.ht",
{"vcf_path": pipeline.get_task("download_clinvar_grch38_vcf")},
{"reference_genome": "GRCh38"},
)
pipeline.add_task(
"annotate_clinvar_grch38_transcript_consequences",
annotate_transcript_consequences,
"/clinvar/clinvar_grch38_annotated.ht",
{
"variants_path": pipeline.get_task("prepare_clinvar_grch38_variants"),
"transcripts_path": genes_pipeline.get_task("extract_grch38_transcripts"),
"mane_transcripts_path": genes_pipeline.get_task("import_mane_select_transcripts"),
},
)
###############################################
# Variants
###############################################
pipeline.add_task(
"prepare_gnomad_v3_variants",
prepare_gnomad_v3_variants,
"/gnomad_v3/gnomad_v3_variants_base.ht",
{"path": "gs://gnomad/release/3.1/ht/genomes/gnomad.genomes.v3.1.sites.ht"},
)
pipeline.add_task(
"annotate_gnomad_v3_transcript_consequences",
annotate_transcript_consequences,
"/gnomad_v3/gnomad_v3_variants_annotated_1.ht",
{
"variants_path": pipeline.get_task("prepare_gnomad_v3_variants"),
"transcripts_path": genes_pipeline.get_task("extract_grch38_transcripts"),
"mane_transcripts_path": genes_pipeline.get_task("import_mane_select_transcripts"),
},
)
###############################################
# Coverage
###############################################
pipeline.add_task(
"prepare_gnomad_v3_coverage",
prepare_coverage,
"/gnomad_v3/gnomad_v3_genome_coverage.ht",
{
"coverage_path": "gs://gnomad-public-requester-pays/release/3.0.1/coverage/genomes/gnomad.genomes.r3.0.1.coverage.ht"
from data_pipeline.pipelines.genes import pipeline as genes_pipeline
pipeline = Pipeline()
pipeline.add_download_task(
"download_clinvar_xml",
"https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/clinvar_variation/ClinVarVariationRelease_00-latest.xml.gz",
"/external_sources/clinvar.xml.gz",
)
pipeline.add_task(
"import_clinvar_xml",
import_clinvar_xml,
"/clinvar/clinvar.ht",
{"clinvar_xml_path": pipeline.get_task("download_clinvar_xml")},
)
pipeline.add_task(
"prepare_clinvar_grch37_variants",
prepare_clinvar_variants,
"/clinvar/clinvar_grch37_base.ht",
{"clinvar_path": pipeline.get_task("import_clinvar_xml")},
{"reference_genome": "GRCh37"},
)
pipeline.add_task(
"vep_clinvar_grch37_variants",
# tolerate_parse_error to ignore not a number error from "NaN" gene symbol
lambda path: hl.vep(hl.read_table(path), tolerate_parse_error=True).drop("vep_proc_id"),
"/clinvar/clinvar_grch37_vepped.ht",
prepare_mitochondrial_variants,
"/mitochondria/mitochondrial_variants_base.ht",
{
"path":
"gs://gnomad-public-requester-pays/release/3.1/ht/genomes/gnomad.genomes.v3.1.sites.chrM.ht",
"mnvs_path": "gs://gnomad-browser/mt_mnvs.tsv",
},
)
pipeline.add_task(
"annotate_mitochondrial_variant_transcript_consequences",
annotate_transcript_consequences,
"/mitochondria/mitochondrial_variants_annotated_1.ht",
{
"variants_path":
pipeline.get_task("prepare_mitochondrial_variants"),
"transcripts_path":
genes_pipeline.get_task("extract_grch38_transcripts"),
"mane_transcripts_path":
genes_pipeline.get_task("import_mane_select_transcripts"),
},
)
###############################################
# Coverage
###############################################
pipeline.add_task(
"prepare_mitochondrial_coverage",
prepare_mitochondrial_coverage,
"/mitochondria/mitochondria_genome_coverage.ht",