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ashwini06 committed Apr 4, 2022
2 parents bd70c3a + 9578e97 commit a80860c
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3 changes: 3 additions & 0 deletions .bumpversion.cfg
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Expand Up @@ -17,6 +17,9 @@ tag_name = v{new_version}
[bumpversion:file:docs/bioinfo_softwares.rst]

[bumpversion:file:docs/user_guide.rst]

[bumpversion:file:docs/install.rst]

search = {current_version}
replace = {new_version}

2 changes: 1 addition & 1 deletion BALSAMIC/commands/init/base.py
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Expand Up @@ -126,7 +126,7 @@
)
@click.option(
"--qos",
type=click.Choice(["low", "normal", "high"]),
type=click.Choice(["low", "normal", "high", "express"]),
show_default=True,
default="low",
help="QOS for sbatch jobs. Passed to " + get_schedulerpy(),
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2 changes: 1 addition & 1 deletion BALSAMIC/commands/run/analysis.py
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Expand Up @@ -106,7 +106,7 @@
)
@click.option(
"--qos",
type=click.Choice(["low", "normal", "high"]),
type=click.Choice(["low", "normal", "high", "express"]),
show_default=True,
default="low",
help="QOS for sbatch jobs. Passed to " + get_schedulerpy(),
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8 changes: 5 additions & 3 deletions CHANGELOG.rst
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Expand Up @@ -4,6 +4,8 @@
Added:
^^^^^^

* Added slurm qos tag `express` #885
* Included more text about UMI-workflow variant calling settings to the readthedocs #888
* Snakemake workflow to create canfam3 reference #843
* Call umi variants using TNscope in bed defined regions #821
* UMI duplication metrics to report in multiqc_picard_dups.json #844
Expand All @@ -22,11 +24,11 @@ Changed:
* Merge QC metric extraction workflows #833
* Changed the base-image for balsamic container to 4.10.3-alpine #869
* updated SVdb to 2.6.0 #871

* Upgrade black to 22.3.0

Fixed:
^^^^^^

* Automate balsamic version for readthedocs install page #888
* ``collect_qc_metrics.py`` failing for WGS cases with empty ``capture_kit`` argument #850
* QC metric validation for different panel bed version #855

Expand All @@ -38,12 +40,12 @@ Removed
* SV and CNV callers from annotation and filtering #871
* vcfanno from SV annotation


[8.2.8]
--------

Added:
^^^^^^

* Added the readthedocs page for BALSAMIC variant-calling filters #867
* Project requirements (setup.py) to build the docs #874
* Generate cram from umi-consensus called bam files #865
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28 changes: 25 additions & 3 deletions docs/balsamic_filters.rst
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Expand Up @@ -33,7 +33,6 @@ indicate that at this site, the mean position in reads is less than 8 and positi
For `Post-call filtering`, in BALSAMIC we have applied various filtering criteria (`Vardict_filtering`_, `TNscope filtering (Tumor_normal)`_ ) depending on the analysis-type (TGS/WGS) and sample-type(tumor-only/tumor-normal).

.. important::

In BALSAMIC, this VCF file is named as `*.all.filtered.pass.vcf.gz` (eg: `SNV.somatic.<CASE_ID>.vardict.all.filtered.pass.vcf.gz`)

**Targeted Genome Analysis**
Expand Down Expand Up @@ -80,7 +79,6 @@ Following are the set of criterias applied for filtering vardict results. Applie
Maximum AF < 1

.. attention::

BALSAMIC <= v8.2.7 uses minimum AF 1% (0.01). From Balsamic v8.2.8, minimum VAF is changed to 0.7% (0.007)

*GNOMADAF_POPMAX*: Maximum Allele Frequency across populations
Expand All @@ -90,7 +88,6 @@ Following are the set of criterias applied for filtering vardict results. Applie
GNOMADAF_popmax <= 0.005 (or) GNOMADAF_popmax == "."

.. important::

Additionally, for tumor-normal cases; the variant is excluded if it marked as 'germline' in the `STATUS` column of vcf file.

**Whole Genome Sequencing (WGS)**
Expand Down Expand Up @@ -187,6 +184,31 @@ The `TNscope <https://www.biorxiv.org/content/10.1101/250647v1.abstract>`_ algor
`UMI workflow <https://balsamic.readthedocs.io/en/latest/FAQs.html>`_ performs the variant calling of SNVs/INDELS using the `TNscope` algorithm from UMI consensus-called reads.
The following filter applies for both tumor-normal and tumor-only samples.

**Pre-call Filters**

*minreads*: Filtering of consensus called reads based on the minimum reads supporting each UMI tag group

::

minreads = 3,1,1

Which means that at least `3` UMI tag groups should be ideally considered from both DNA strands, where a minimum of atleast `1` UMI tag group should exist in each of the single-stranded consensus reads.

*min_init_tumor_lod* : Log odds is the likelihood that the candidate mutation is real over the likelihood that the candidate mutation is a sequencing error before any read-based filters are applied.
minimum log odds for the candidate selection. TNscope default: `4`

::

min_init_tumor_lod = 0.5

*min_tumor_lod* : minimum log odds in the final call of variants. TNscope default: `6.3`

::

min_tumor_lod = 4.0

**Post-call Filters**

*GNOMADAF_POPMAX*: Maximum Allele Frequency across populations

::
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2 changes: 1 addition & 1 deletion docs/install.rst
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Expand Up @@ -2,7 +2,7 @@
Installation
============

This section describes steps to install BALSAMIC (**version** = 4.1.0)
This section describes steps to install BALSAMIC (**version** = 8.2.8)



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2 changes: 1 addition & 1 deletion requirements-dev.txt
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Expand Up @@ -2,6 +2,6 @@ pytest>=3.7.1
pytest-cov==2.8.1
coveralls
pylint
black==21.7b0
black==22.3.0
pillow>=8.4.0
fpdf2>=2.4.6

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