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Merge pull request #525 from moka-guys/develop
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Develop (#525)

Co-Authored-By: MokaGuys <mokaguys@gmail.com>
Co-Authored-By: Aled Jones <aledjones@nhs.net>
Co-Authored-By: RachelDuffin <rachel.g.duffin@gmail.com>
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3 people authored Dec 19, 2023
2 parents 86c6e99 + 8744cee commit 2d9b74a
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38 changes: 19 additions & 19 deletions automate_demultiplex_config.py
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### exome depth
# exome depth readcount app
ED_readcount_path = "Apps/ED_readcount_analysis_v1.2.0"
ED_readcount_path = "Apps/ED_readcount_analysis_v1.3.0"
ED_readcount_path_instance_type = "mem1_ssd1_v2_x8"
#exome depth variant calling app
ED_cnvcalling_path = "Apps/ED_cnv_calling_v1.2.0"
ED_cnvcalling_path = "Apps/ED_cnv_calling_v1.3.0"
ED_cnvcalling_instance_type = "mem1_ssd1_v2_x4"
#VCP1 exome depth
ED_readcount_normals_VCP1_file= "project-ByfFPz00jy1fk6PjpZ95F27J:file-GZYK6380f66PPy4kjzVQ7xj8"#"Pan5191_normals_v1.0.0.RData"
ED_readcount_normals_VCP1_file= "project-ByfFPz00jy1fk6PjpZ95F27J:file-Gbv7Yb80v8Q40f8v140QBPQv"#"Pan5191_normals_v1.1.0.RData"
ED_VCP1_readcount_BEDfile_pannum = "Pan5191_exomedepth.bed"
#VCP2 normals data file
ED_readcount_normals_VCP2_file="project-ByfFPz00jy1fk6PjpZ95F27J:file-GZYbq400YG627Q12g1bbP440"#"Pan5188_normals_v1.0.0.RData"
ED_readcount_normals_VCP2_file="project-ByfFPz00jy1fk6PjpZ95F27J:file-Gbkgyq00ZpxpFKx03zVPJ9GX"#"Pan5188_normals_v1.1.0.RData"
ED_VCP2_readcount_BEDfile_pannum = "Pan5188_exomedepth.bed"
#VCP3 normals data file
ED_readcount_normals_VCP3_file=None #"Pan5149_normals_v1.0.0.RData"
ED_VCP3_readcount_BEDfile_pannum = None #"Pan5149_exomedepth.bed"
ED_readcount_normals_VCP3_file="project-ByfFPz00jy1fk6PjpZ95F27J:file-GbkY5v80jjgjkJqPXbgFpYzF"#"Pan5192_normals_v1.0.0.RData"
ED_VCP3_readcount_BEDfile_pannum = "Pan5192_exomedepth.bed"

exomedepth_refgenome_file = "project-ByfFPz00jy1fk6PjpZ95F27J:file-B6ZY7VG2J35Vfvpkj8y0KZ01" #hs37d5.fa.gz from 001
## readcount app inputs
Expand Down Expand Up @@ -981,7 +981,7 @@
"sambamba_bedfile": "Pan5123dataSambamba.bed",
"variant_calling_bedfile": "Pan5119data.bed",
"polyedge": "MSH2",
"exome_depth_cnvcalling_BED": "Pan5193" # use R211 CNV bedfile
"exome_depth_cnvcalling_BED": "Pan5206"
},
"Pan4130": { # VCP2 R211 polyposis (Viapath)
"mokapipe": True,
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"hsmetrics_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
"variant_calling_bedfile": "Pan4995data.bed",
# "exome_depth_cnvcalling_BED": "Pan5174" # CNV BED not yet available
"exome_depth_cnvcalling_BED": "Pan5174"
},
"Pan4144": { # VCP3 R78 (Viapath)
"mokapipe": True,
Expand All @@ -1120,7 +1120,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
"variant_calling_bedfile": "Pan4995data.bed",
#"exome_depth_cnvcalling_BED": "Pan5168" #Exome depth does not support VCP3 yet
"exome_depth_cnvcalling_BED": "Pan5168"
},
"Pan4146": { # VCP3 R81 CM (Viapath)
"mokapipe": True,
Expand All @@ -1131,7 +1131,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
"variant_calling_bedfile": "Pan4995data.bed",
#"exome_depth_cnvcalling_BED": "Pan5170" #Exome depth does not support VCP3 yet
"exome_depth_cnvcalling_BED": "Pan5170"
},
"Pan4151": { # VCP3 R82 limb girdle (Viapath)
"mokapipe": True,
Expand All @@ -1152,7 +1152,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
"variant_calling_bedfile": "Pan4995data.bed",
#"exome_depth_cnvcalling_BED": "Pan5177" #Exome depth does not support VCP3 yet
"exome_depth_cnvcalling_BED": "Pan5177"
},
"Pan4387": { # VCP3 R90 Bleeding and platelet disorders (Viapath)
"mokapipe": True,
Expand All @@ -1163,7 +1163,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
"variant_calling_bedfile": "Pan4995data.bed",
#"exome_depth_cnvcalling_BED": "Pan5171" #Exome depth does not support VCP3 yet
"exome_depth_cnvcalling_BED": "Pan5171"
},
"Pan4390": { # VCP3 R97 Thrombophilia with a likely monogenic cause (Viapath)
"mokapipe": True,
Expand All @@ -1174,7 +1174,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
"variant_calling_bedfile": "Pan4995data.bed",
#"exome_depth_cnvcalling_BED": "Pan5173", #Exome depth does not support VCP3 yet
"exome_depth_cnvcalling_BED": "Pan5173",
},
"Pan4314": { # VCP3 R229 (Viapath)
"mokapipe": True,
Expand All @@ -1185,7 +1185,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
"variant_calling_bedfile": "Pan4995data.bed",
# "exome_depth_cnvcalling_BED": "Pan5179", bedfile not yet made
"exome_depth_cnvcalling_BED": "Pan5179",
},
"Pan4396": { # ArcherDx (Synnovis)
"archerdx": True,
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"hsmetrics_bedfile": "Pan4995data.bed",
"variant_calling_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
# "exome_depth_cnvcalling_BED": "Pan5174" BEDfile not yet available
"exome_depth_cnvcalling_BED": "Pan5174"
},
"Pan4832": { # VCP3 STG R78
"mokapipe": True,
Expand All @@ -1401,7 +1401,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"variant_calling_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
# "exome_depth_cnvcalling_BED": "Pan5168", #Exome depth does not support VCP3 yet
"exome_depth_cnvcalling_BED": "Pan5168",
},
"Pan4834": { # VCP3 STG R81
"mokapipe": True,
Expand All @@ -1414,7 +1414,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"variant_calling_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
#"exome_depth_cnvcalling_BED": "Pan5170", #Exome depth does not support VCP3 yet
"exome_depth_cnvcalling_BED": "Pan5170",
},
"Pan4835": { # VCP3 STG R82
"mokapipe": True,
Expand All @@ -1439,7 +1439,7 @@
"hsmetrics_bedfile": "Pan4995data.bed",
"variant_calling_bedfile": "Pan4995data.bed",
"sambamba_bedfile": "Pan4995dataSambamba.bed",
#"exome_depth_cnvcalling_BED": "Pan5179" BEDfile not yet available
"exome_depth_cnvcalling_BED": "Pan5179"
},
"Pan4819": { # VCP2 STG R210
"mokapipe": True,
Expand All @@ -1453,7 +1453,7 @@
"variant_calling_bedfile": "Pan5119data.bed",
"sambamba_bedfile": "Pan5123dataSambamba.bed",
"polyedge": "MSH2",
"exome_depth_cnvcalling_BED": "Pan5193" # useR211 bedfile
"exome_depth_cnvcalling_BED": "Pan5206"
},
"Pan4820": { # VCP2 STG R211
"mokapipe": True,
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2 changes: 1 addition & 1 deletion upload_and_setoff_workflows.py
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Expand Up @@ -1785,7 +1785,7 @@ def determine_exome_depth_requirements(self,pannnumber_list):
# first build readcount command
command_list.append(self.build_ED_readcount_cmd(set(VCP3), config.ED_readcount_normals_VCP3_file,config.ED_VCP3_readcount_BEDfile_pannum))
command_list.append(self.add_to_depends_list("exomedepth", 'depends_list_ED_readcount'))
for panel in set(VCP2):# then build cnvcalling commands
for panel in set(VCP3):# then build cnvcalling commands
command_list.append(self.build_ED_cnv_calling_cmd(panel))

return command_list
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