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GATK 4.1.4.0 Dev #27

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d1c5cbc
README.md
Nov 7, 2018
4b08f6a
Update to gatk4.1
Feb 1, 2019
ab1fccc
Updated forum links in Readme
Feb 1, 2019
f2ec9cc
changed ref file VM path to google bucket path
Feb 1, 2019
ad695aa
Merge branch 'master' into dev
Feb 1, 2019
257166f
updated import link to git tag url
Feb 1, 2019
9b0c86f
Merge branch 'master' of github.com:gatk-workflows/gatk4-somatic-snvs…
Apr 2, 2019
b814bc3
updated to GATK4.1.1.0
Apr 2, 2019
579e36a
minor edits
Apr 2, 2019
f722ae4
changed import to dev for pon
Apr 2, 2019
1594883
updated filter bias variable
Apr 4, 2019
6f58280
updated filter bias variable
Apr 4, 2019
92c1abf
updated output variable names, removed artifact_mode from normal-normal
Apr 4, 2019
0f38435
changed index to idx
Apr 4, 2019
5da3b20
removed artifact_modes
Apr 4, 2019
0ecee17
updated import to next release: 2.4.0
Apr 5, 2019
1719562
specified gatk version in readme
Apr 5, 2019
566fec1
Merge branch 'master' of github.com:gatk-workflows/gatk4-somatic-snvs…
Apr 25, 2019
f055dfc
Added Funcotator note to readme
Apr 25, 2019
0d31a9f
Update to gatk4.1.2.0
Apr 25, 2019
de2d5b3
updated input variable for mutect2
Apr 25, 2019
4054e9b
correctin to input vairalbe
Apr 25, 2019
d7438e1
correction to output variable
Apr 25, 2019
7e22a33
corrected variable name and simplified json
Aug 19, 2019
1494e0b
Merge branch 'master' into dev
Aug 19, 2019
1026dbe
Merge branch 'master' of github.com:gatk-workflows/gatk4-somatic-snvs…
Sep 23, 2019
7dabf3c
renamed input json, removed optional variables from json, updated reg…
Sep 23, 2019
8b690cb
removed nio wdl
Sep 23, 2019
6c8374d
minor update
Sep 23, 2019
9bc5597
Merge branch 'dev' of github.com:gatk-workflows/gatk4-somatic-snvs-in…
Sep 23, 2019
17af7dd
removed comments in json because later version of cromwell throws err…
Sep 23, 2019
0a5b6bd
corrections to import url for pon wdl
Sep 23, 2019
356a43d
mutect2 WDL and pon WDL had inconsistent input names
Sep 26, 2019
98316f3
mutect2 WDL and pon WDL had inconsistent input names
Sep 26, 2019
694372a
added standard_runtime to pon
Sep 26, 2019
c816321
add runtime structs
Sep 26, 2019
085ea22
add runtime structs for mergevcf
Sep 26, 2019
7cfd447
Update mutect2_pon.wdl
Sep 27, 2019
af9cacc
cleaned up input variables
Sep 30, 2019
dc46cd8
Update README.md
Sep 30, 2019
00328d1
updated docker to 4.1.4.0, updated import url to latest release
Oct 11, 2019
bb1c6b2
Merge branch 'dev' of github.com:gatk-workflows/gatk4-somatic-snvs-in…
Oct 11, 2019
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Added Funcotator note to readme
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bshifaw committed Apr 25, 2019
commit f055dfc383b9cc561b049e99435e738a1d501731
13 changes: 13 additions & 0 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -87,6 +87,19 @@ override:NCBI_Build=37,Strand=+,status=Somatic,phase=Phase_I,sequencer=Illumina,
```
- ``Mutect2.filter_oncotator_maf`` -- (optional, default true) Whether Oncotator should remove filtered variants when rendering the MAF.  Ignored if `run_oncotator` is false.

### Functional annotation (Funcotator)

Funcotator (**FUNC**tional ann**OTATOR**) is a functional annotation tool in the core GATK toolset and was designed to handle both somatic and germline use cases. It analyzes given variants for their function (as retrieved from a set of data sources) and produces the analysis in a specified output file. Funcotator reads in a VCF file, labels each variant with one of twenty-three distinct variant classifications, produces gene information (e.g. affected gene, predicted variant amino acid sequence, etc.), and associations to information in datasources. Default supported datasources include GENCODE (gene information and protein change prediction), dbSNP, gnomAD, and COSMIC (among others). The corpus of datasources is extensible and user-configurable and includes cloud-based datasources supported with Google Cloud Storage. Funcotator produces either a Variant Call Format (VCF) file (with annotations in the INFO field) or a Mutation Annotation Format (MAF) file.

Funcotator allows the user to add their own annotations to variants based on a set of data sources. Each data source can be customized to annotate a variant based on several matching criteria. This allows a user to create their own custom annotations easily, without modifying any Java code.

By default the M2 WDL runs Funcotator for functional annotation and produce a TCGA MAF from the M2 VCF. There are several notes and caveats
- Several parameters should be passed in to populate the TCGA MAF metadata fields. Default values are provided, though we recommend that you specify the values. These parameters are ignored if you do not run Funcotator.
- Several fields in a TCGA MAF cannot be generated by M2 and Funcotator, such as all fields relating to validation alleles. These will need to be populated by a downstream process created by the user.
- Funcotator does not enforce the TCGA MAF controlled vocabulary, since it is often too restrictive for general use. This is up to the user to specify correctly.
*Therefore, we cannot guarantee that a TCGA MAF generated here will pass the TCGA Validator*. If you are unsure about the ramifications of this statement, then it probably does not concern you.
- More information about Funcotator can be found at: https://gatkforums.broadinstitute.org/dsde/discussion/11193/funcotator-information-and-tutorial/

### Important Note :
- Runtime parameters are optimized for Broad's Google Cloud Platform implementation.
- For help running workflows on the Google Cloud Platform or locally please
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