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feat: test v17 snv changes #1513

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de62484
add merge script
mathiasbio Nov 11, 2024
1605c8c
replace bcftools with custom script
mathiasbio Nov 11, 2024
35401bc
fix script
mathiasbio Nov 11, 2024
c99b1e6
update vcfpy
mathiasbio Nov 12, 2024
a34f0fc
black
mathiasbio Nov 12, 2024
b3d5271
add more docstrings and typehints
mathiasbio Nov 12, 2024
29e87a6
fix
mathiasbio Nov 12, 2024
be9373d
add RPA filter
mathiasbio Nov 12, 2024
3cd7cdc
add rpa filter to tumor only
mathiasbio Nov 12, 2024
4bda98f
add rpa to params
mathiasbio Nov 12, 2024
61069d4
set maximum rpa to 10
mathiasbio Nov 12, 2024
bee17f0
attempt fix
mathiasbio Nov 12, 2024
870820b
update script
mathiasbio Nov 20, 2024
0bf6a27
fixes
mathiasbio Nov 21, 2024
c5da949
fix
mathiasbio Nov 21, 2024
f93d44e
fix
mathiasbio Nov 21, 2024
92afcd0
Merge branch 'master' of github.com:Clinical-Genomics/BALSAMIC
mathiasbio Nov 21, 2024
67c6701
Merge branch 'master' into develop
mathiasbio Nov 21, 2024
bfdd6e1
Merge branch 'develop' into merge_snv_variants_script
mathiasbio Nov 21, 2024
5b9d7c7
Merge branch 'merge_snv_variants_script' of github.com:Clinical-Genom…
mathiasbio Nov 21, 2024
2fab1f3
black
mathiasbio Nov 21, 2024
cd6ee22
revert
mathiasbio Nov 21, 2024
2a3dd7d
reformat
mathiasbio Nov 21, 2024
95c06ef
try
mathiasbio Nov 28, 2024
66e642c
fix
mathiasbio Nov 29, 2024
0862377
Merge branch 'develop' of github.com:Clinical-Genomics/BALSAMIC into …
mathiasbio Nov 29, 2024
ea4b5ce
rework bcftools filter
mathiasbio Nov 29, 2024
f60adac
black
mathiasbio Nov 29, 2024
3874a90
changelog
mathiasbio Nov 29, 2024
6b3fe6e
fix
mathiasbio Nov 29, 2024
e96a980
fix
mathiasbio Nov 29, 2024
68aeae1
new filter
mathiasbio Dec 10, 2024
24fd9a1
convert to list
mathiasbio Dec 10, 2024
13fab22
major refactor of filter logic
mathiasbio Dec 16, 2024
c66a66e
bug fixes
mathiasbio Dec 16, 2024
72cfbe1
fix
mathiasbio Dec 16, 2024
50fbc0a
fix
mathiasbio Dec 16, 2024
61aa1ab
test
mathiasbio Dec 16, 2024
28de8d4
fix
mathiasbio Dec 16, 2024
f3f5cb2
fix bug
mathiasbio Dec 16, 2024
3095fd9
fix
mathiasbio Dec 17, 2024
b2c62c6
black
mathiasbio Dec 17, 2024
d435039
update comments
mathiasbio Dec 17, 2024
eb46385
fix clinical and research filters
mathiasbio Dec 17, 2024
4ed6303
Merge branch 'merge_snv_variants_script' into test_v17_snv_changes
mathiasbio Dec 17, 2024
82b8f62
Merge branch 'disable_normal_hardfilter' into test_v17_snv_changes
mathiasbio Dec 17, 2024
6d77bf3
merge softfilter
mathiasbio Dec 17, 2024
f657e63
Merge branch 'add_rpa_filter' into test_v17_snv_changes
mathiasbio Dec 17, 2024
7c3a484
fix vardict tn hardfilters
mathiasbio Dec 18, 2024
a3b89fb
Merge branch 'disable_normal_hardfilter' of github.com:Clinical-Genom…
mathiasbio Dec 18, 2024
f9d96f9
Merge branch 'disable_normal_hardfilter' into test_v17_snv_changes
mathiasbio Dec 18, 2024
0456b05
update vardict hardfilters
mathiasbio Dec 18, 2024
a97760b
Merge branch 'disable_normal_hardfilter' of github.com:Clinical-Genom…
mathiasbio Dec 18, 2024
c3b2b5f
Merge branch 'disable_normal_hardfilter' into test_v17_snv_changes
mathiasbio Dec 18, 2024
f29b271
remove pass and triallelic site prefilters
mathiasbio Dec 18, 2024
f47e9e8
Merge branch 'disable_normal_hardfilter' of github.com:Clinical-Genom…
mathiasbio Dec 18, 2024
2aceb11
Merge branch 'disable_normal_hardfilter' into test_v17_snv_changes
mathiasbio Dec 18, 2024
84dd929
fix bug
mathiasbio Dec 18, 2024
169ef1a
Merge branch 'disable_normal_hardfilter' of github.com:Clinical-Genom…
mathiasbio Dec 18, 2024
9af4d7e
Merge branch 'disable_normal_hardfilter' into test_v17_snv_changes
mathiasbio Dec 18, 2024
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408 changes: 408 additions & 0 deletions BALSAMIC/assets/scripts/merge_snv_variantcallers.py

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4 changes: 4 additions & 0 deletions BALSAMIC/commands/config/case.py
Original file line number Diff line number Diff line change
Expand Up @@ -22,6 +22,7 @@
OPTION_CASE_ID,
OPTION_CLINICAL_SNV_OBSERVATIONS,
OPTION_CLINICAL_SV_OBSERVATIONS,
OPTION_SOFT_FILTER_NORMAL,
OPTION_EXOME,
OPTION_FASTQ_PATH,
OPTION_GENDER,
Expand Down Expand Up @@ -77,6 +78,7 @@
@OPTION_CASE_ID
@OPTION_CLINICAL_SNV_OBSERVATIONS
@OPTION_CLINICAL_SV_OBSERVATIONS
@OPTION_SOFT_FILTER_NORMAL
@OPTION_EXOME
@OPTION_FASTQ_PATH
@OPTION_GENDER
Expand Down Expand Up @@ -121,6 +123,7 @@ def case_config(
pon_cnn: Path,
sentieon_install_dir: Path,
sentieon_license: str,
soft_filter_normal: bool,
swegen_snv: Path,
swegen_sv: Path,
tumor_sample_name: str,
Expand Down Expand Up @@ -193,6 +196,7 @@ def case_config(
},
analysis={
"case_id": case_id,
"soft_filter_normal": soft_filter_normal,
"gender": gender,
"analysis_dir": analysis_dir,
"fastq_path": analysis_fastq_dir,
Expand Down
7 changes: 7 additions & 0 deletions BALSAMIC/commands/options.py
Original file line number Diff line number Diff line change
Expand Up @@ -141,6 +141,13 @@
help="Cluster configuration JSON file path",
)

OPTION_SOFT_FILTER_NORMAL = click.option(
"--soft-filter-normal",
is_flag=True,
default=False,
help="Flag to disable hard-filtering on presence of variants in matched normal sample",
)

OPTION_CLUSTER_MAIL = click.option(
"--mail-user",
type=click.STRING,
Expand Down
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