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Update gnomAD v3 hg38 bed file reference (#54)
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EddieLF authored Apr 16, 2024
1 parent 1d00240 commit 4a0d90b
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Showing 2 changed files with 2 additions and 8 deletions.
Original file line number Diff line number Diff line change
Expand Up @@ -32,7 +32,7 @@ def get_ref_files(bed_ref: str, sd_ref: str, outfile_path: str) -> None:


@click.command()
@click.option('--bed-ref', required=True, help='String identifier for the BED file from the references.', default='hg38_telomeres_and_centromeres')
@click.option('--bed-ref', required=True, help='String identifier for the BED file from the references.', default='gnomad/tel_and_cent_bed')
@click.option('--sd-ref', required=True, help='String identifier for the sequence dictionary file from the references.', default='broad/genome_calling_interval_lists')
@click.option('--out-ref', required=True, help='Reference path to save the output .interval_list file.', default='hg38_telomeres_and_centromeres_intervals/interval_list')
def main(bed_ref, sd_ref, out_ref):
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8 changes: 1 addition & 7 deletions references.py
Original file line number Diff line number Diff line change
Expand Up @@ -209,6 +209,7 @@ def is_folder(self) -> bool:
transfer_cmd=gcs_cp_r,
files=dict(
tel_and_cent_ht='telomeres_and_centromeres/hg38.telomeresAndMergedCentromeres.ht',
tel_and_cent_bed='telomeres_and_centromeres/hg38.telomeresAndMergedCentromeres.bed',
lcr_intervals_ht='lcr_intervals/LCRFromHengHg38.ht',
seg_dup_intervals_ht='seg_dup_intervals/GRCh38_segdups.ht',
clinvar_ht='clinvar/clinvar_20190923.ht',
Expand Down Expand Up @@ -403,13 +404,6 @@ def is_folder(self) -> bool:
remm_index='ReMM.v0.3.1.post1.hg38.tsv.gz.tbi',
),
),
Source(
'hg38_telomeres_and_centromeres',
# gnomAD v3 hg38 coordinates for telomeres and centromeres
src='gs://gcp-public-data--gnomad/resources/grch38/telomeres_and_centromeres/hg38.telomeresAndMergedCentromeres.bed',
dst='hg38/v0/hg38.telomeresAndMergedCentromeres.bed',
transfer_cmd=gcs_cp_r,
),
Source(
'hg38_telomeres_and_centromeres_intervals',
# gnomAD v3 hg38 coordinates for telomeres and centromeres converted to interval_list
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