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@@ -47,6 +47,16 @@ refseq_gff = "/home/t_steimle/ref/hs1/chm13v2.0_RefSeq_Liftoff_v5.1_sorted.gff3.
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# dbSNP vcf.gz file (should be indexed)
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db_snp = "/home/t_steimle/ref/hs1/chm13v2.0_dbSNPv155.vcf.gz"
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+# BED with genes on the 4th column should be sorted
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+genes_bed = "/home/t_steimle/ref/hs1/chm13v2.0_RefSeq_Liftoff_v5.1_Genes.bed"
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+
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+# Cytobands BED file
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+cytobands_bed = "/home/t_steimle/ref/hs1/chm13v2.0_cytobands_allchrs.bed"
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+
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+# Chromosome alias file
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+# ex: https://hgdownload.soe.ucsc.edu/hubs/GCA/009/914/755/GCA_009914755.4/GCA_009914755.4.chromAlias.txt
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+chromosomes_alias = "/home/t_steimle/ref/hs1/GCA_009914755.4.chromAlias.txt"
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+
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# Template for mask BED file (low-quality / filtered regions).
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# {result_dir} -> global result directory
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# {id} -> case identifier
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@@ -54,8 +64,7 @@ mask_bed = "{result_dir}/{id}/diag/mask.bed"
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# Panels of interest: [ [name, bed_path], ... ]
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panels = [
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- ["Cytoband", "/home/t_steimle/ref/hs1/chm13v2.0_cytobands_allchrs.bed"],
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- ["PanelCM", "/home/t_steimle/ref/hs1/panel_cm_hs1.bed"],
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+ ["CM", "/home/t_steimle/ref/hs1/panel_cm_hs1.bed"],
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]
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repeats_bed = "/home/t_steimle/ref/hs1/all_repeats_chm13_final.bed"
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