# HG changeset patch
# User geert-vandeweyer
# Date 1601022657 0
# Node ID 5c324f9a4e20b3c3b2f9d409dbe6fb9fc5d8e090
# Parent febc6023d37bf9412e7cfebc06582a107164f6b5
Uploaded
diff -r febc6023d37b -r 5c324f9a4e20 README.rst
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/README.rst Fri Sep 25 08:30:57 2020 +0000
@@ -0,0 +1,4 @@
+varAmpliCNV
+===========
+
+Wrappers for the varAmpliCNV package for HaloPlex CNV calling
diff -r febc6023d37b -r 5c324f9a4e20 VarAmpliCNV_Anno.xml
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/VarAmpliCNV_Anno.xml Fri Sep 25 08:30:57 2020 +0000
@@ -0,0 +1,51 @@
+
+
+ cmgantwerpen/varamplicnv:1.0.0
+
+
+
+
+
+
+
+
+
+
+
+
+
+**VarAmpliCNV : BED file PreProcessing**
+
+Preprocessing includes removing SNP (unwanted amplicons) coordinates and duplicate coordinates. It also adds Region annotations to input region of interest (ROI) used during plotting.
+
+**Parameters are :**
+
+* Amplicon Design File (BED) : This is the *exact* BED file provided by HaloPlex, containing the restriction fragments.
+* ROI file (BED) : Typically the file provided *to* HaloPlex as the basis of the design. Names in column 4 are used to annotate CNV plots
+* Ignore list (BED) : (optional) Provide amplicons present in amplicon design, to exclude during the analysis
+
+**Output files :**
+
+* DeDuplicated amplicon List (BED) : Use this file in subsequent steps (GC and Counting).
+* ROI-Annotated List : This file is needed during CNV-calling.
+
+
diff -r febc6023d37b -r 5c324f9a4e20 VarAmpliCNV_CallCNVs.xml
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/VarAmpliCNV_CallCNVs.xml Fri Sep 25 08:30:57 2020 +0000
@@ -0,0 +1,96 @@
+
+
+ cmgantwerpen/varamplicnv:1.0.0
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+**VarAmpliCNV : Call CNVs**
+
+During CNV calling read counts are normalized over all samples inluced during "count merging", a set fraction of variance is removed and circular binary segmentation is applied to identify CNVs. If specified, a post-processing step is applied to take amplicon size and overlap into account to estimate reliability of the event. Passing CNVs are plotted gene-by-gene.
+
+**Parameters are :**
+
+* Sample Amplicon Counts (RData) : The result from the 'Merge Counts' tool. It contains a raw sample-by-amplicon count matrix.
+* Amplicon BED file (BED) : This is the *exact* BED file provided by HaloPlex for the used library, with duplicates removed using the VarAmpliCNV "Annotate" tool.
+* ROI file (BED) : This is the *exact* BED file provided by HaloPlex for the used library, with duplicates removed and annotated with gene symbols using the VarAmpliCNV "Annotate" tool.
+* Amplicon GC Content (txt) : GC-content of individual amplicons, used for count correction. Generated using VarAmpliCNV 'Amplicon GC-Content' tool.
+* Sample Genders (txt) : Optional. If specified, build gender-specific normalization sets for X and Y chromosomes. Format is tab-separated : SamplenName<tab>M/F/U
+* Fraction of Variance to Remove : Using an approach similar to Principal component analysis, a preset fraction of noise is removed from the data. Higher values typically result in less CNVs.
+* Analysis Type : Direct Segmentation applies only CBS and will not plot results. Amplicon Overlap Filtering is a post-processing filter to improve specificity, and will also enable plotting. The full CBS-results are always returned for manual inspection.
+* Thresholds : Set mininal values for LogR-based filtering of the called Segments.
+
+
+**Output files :**
+
+* Parameter_settings : Overview of set and derived settings + a list of discarded samples
+* Plots.Quality_Measures : Quality metrics: coverage, variance by PC, GC-coverage-correlation
+* Plots.Results : Gene-based CNV plots for segments passing the filters (if AOF is activated)
+* Table.Results.Full : Full CBS results
+* Table.Results.Filtered : Filtered CBS results (on LogR).
+
+
diff -r febc6023d37b -r 5c324f9a4e20 VarAmpliCNV_Count.xml
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/VarAmpliCNV_Count.xml Fri Sep 25 08:30:57 2020 +0000
@@ -0,0 +1,54 @@
+
+
+ cmgantwerpen/varamplicnv:1.0.0
+
+
+
+
+
+
+
+
+
+
+
+
+**VarAmpliCNV : Counting**
+
+BAM files are parsed for readpairs exactly matching specified amplicons, based on start and end position.
+
+**Parameters are :**
+
+* Amplicon Design File (BED) : The de-duplicated amplicon list, generated by "varAmpliCNV Annotate".
+* Sample Data (BAM) : The sample read data, provided as a single BAM file, or a collection of BAM files.
+
+**Output files :**
+
+* Count file (txt): the amplicon-read table.
+* Unmapped (BAM) : Reads not matching amplicons. This bam file can be used to investigate issues.
+* Stats (txt): Overview of the matching performance. Use it to investigate issues.
+
+In case a collection of BAM files is provided, the output files will be grouped in collections as well.
+
+
+
diff -r febc6023d37b -r 5c324f9a4e20 VarAmpliCNV_GC.xml
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/VarAmpliCNV_GC.xml Fri Sep 25 08:30:57 2020 +0000
@@ -0,0 +1,43 @@
+
+
+ cmgantwerpen/varamplicnv:1.0.0
+
+
+
+
+
+
+
+
+
+
+
+
+
+**VarAmpliCNV : GC-calculation**
+
+Calculate the GC-content of entries in a BED file.
+
+**Parameters are :**
+
+* Amplicon Design File (BED) : The de-duplicated amplicon list, generated by "varAmpliCNV Annotate".
+* Genome Build : Select a genome build from the configured options to extract GC content from.
+
+**Output files :**
+
+* GC-content (txt) : Tabular file containing GC information per region.
+
+
+
diff -r febc6023d37b -r 5c324f9a4e20 VarAmpliCNV_MergeCounts.xml
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/VarAmpliCNV_MergeCounts.xml Fri Sep 25 08:30:57 2020 +0000
@@ -0,0 +1,39 @@
+
+
+ cmgantwerpen/varamplicnv:1.0.0
+
+
+
+
+
+
+
+
+
+
+**VarAmpliCNV : Merge Count files**
+
+Merge a list of count files from "varAmpliCNV Count" into a single cohort for CNV-calling.
+
+**Parameters are :**
+
+* Count file (txt) : A list or collection of count files from "varAmpliNCV Count".
+
+
+**Output files :**
+
+* Count-by-Sample Matrix (Rdata) : Rdata object containing counts for all provided samples.
+
+
diff -r febc6023d37b -r 5c324f9a4e20 tool-data/TwoBit.loc.sample
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/tool-data/TwoBit.loc.sample Fri Sep 25 08:30:57 2020 +0000
@@ -0,0 +1,9 @@
+# This file lists 2bit indices used for GC-computation in VarAmpliCNV
+
+# white space is TAB !
+
+# make sure to add the path to docker_volumes !
+
+#
+#
+#hg19 hg19 Human: hg19/GRCh37 /opt/NGS/References/hg19/2bit/hg19.2bit
diff -r febc6023d37b -r 5c324f9a4e20 tool_data_table_conf.xml.sample
--- /dev/null Thu Jan 01 00:00:00 1970 +0000
+++ b/tool_data_table_conf.xml.sample Fri Sep 25 08:30:57 2020 +0000
@@ -0,0 +1,7 @@
+
+
+
+ short, dbkey, name, value
+
+
+
diff -r febc6023d37b -r 5c324f9a4e20 varamplicnv-5bafb1c69d03/README.rst
--- a/varamplicnv-5bafb1c69d03/README.rst Fri Sep 25 08:29:36 2020 +0000
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,4 +0,0 @@
-varAmpliCNV
-===========
-
-Wrappers for the varAmpliCNV package for HaloPlex CNV calling
diff -r febc6023d37b -r 5c324f9a4e20 varamplicnv-5bafb1c69d03/VarAmpliCNV_Anno.xml
--- a/varamplicnv-5bafb1c69d03/VarAmpliCNV_Anno.xml Fri Sep 25 08:29:36 2020 +0000
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,51 +0,0 @@
-
-
- cmgantwerpen/varamplicnv:1.0.0
-
-
-
-
-
-
-
-
-
-
-
-
-
-**VarAmpliCNV : BED file PreProcessing**
-
-Preprocessing includes removing SNP (unwanted amplicons) coordinates and duplicate coordinates. It also adds Region annotations to input region of interest (ROI) used during plotting.
-
-**Parameters are :**
-
-* Amplicon Design File (BED) : This is the *exact* BED file provided by HaloPlex, containing the restriction fragments.
-* ROI file (BED) : Typically the file provided *to* HaloPlex as the basis of the design. Names in column 4 are used to annotate CNV plots
-* Ignore list (BED) : (optional) Provide amplicons present in amplicon design, to exclude during the analysis
-
-**Output files :**
-
-* DeDuplicated amplicon List (BED) : Use this file in subsequent steps (GC and Counting).
-* ROI-Annotated List : This file is needed during CNV-calling.
-
-
diff -r febc6023d37b -r 5c324f9a4e20 varamplicnv-5bafb1c69d03/VarAmpliCNV_CallCNVs.xml
--- a/varamplicnv-5bafb1c69d03/VarAmpliCNV_CallCNVs.xml Fri Sep 25 08:29:36 2020 +0000
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,96 +0,0 @@
-
-
- cmgantwerpen/varamplicnv:1.0.0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-**VarAmpliCNV : Call CNVs**
-
-During CNV calling read counts are normalized over all samples inluced during "count merging", a set fraction of variance is removed and circular binary segmentation is applied to identify CNVs. If specified, a post-processing step is applied to take amplicon size and overlap into account to estimate reliability of the event. Passing CNVs are plotted gene-by-gene.
-
-**Parameters are :**
-
-* Sample Amplicon Counts (RData) : The result from the 'Merge Counts' tool. It contains a raw sample-by-amplicon count matrix.
-* Amplicon BED file (BED) : This is the *exact* BED file provided by HaloPlex for the used library, with duplicates removed using the VarAmpliCNV "Annotate" tool.
-* ROI file (BED) : This is the *exact* BED file provided by HaloPlex for the used library, with duplicates removed and annotated with gene symbols using the VarAmpliCNV "Annotate" tool.
-* Amplicon GC Content (txt) : GC-content of individual amplicons, used for count correction. Generated using VarAmpliCNV 'Amplicon GC-Content' tool.
-* Sample Genders (txt) : Optional. If specified, build gender-specific normalization sets for X and Y chromosomes. Format is tab-separated : SamplenName<tab>M/F/U
-* Fraction of Variance to Remove : Using an approach similar to Principal component analysis, a preset fraction of noise is removed from the data. Higher values typically result in less CNVs.
-* Analysis Type : Direct Segmentation applies only CBS and will not plot results. Amplicon Overlap Filtering is a post-processing filter to improve specificity, and will also enable plotting. The full CBS-results are always returned for manual inspection.
-* Thresholds : Set mininal values for LogR-based filtering of the called Segments.
-
-
-**Output files :**
-
-* Parameter_settings : Overview of set and derived settings + a list of discarded samples
-* Plots.Quality_Measures : Quality metrics: coverage, variance by PC, GC-coverage-correlation
-* Plots.Results : Gene-based CNV plots for segments passing the filters (if AOF is activated)
-* Table.Results.Full : Full CBS results
-* Table.Results.Filtered : Filtered CBS results (on LogR).
-
-
diff -r febc6023d37b -r 5c324f9a4e20 varamplicnv-5bafb1c69d03/VarAmpliCNV_Count.xml
--- a/varamplicnv-5bafb1c69d03/VarAmpliCNV_Count.xml Fri Sep 25 08:29:36 2020 +0000
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,54 +0,0 @@
-
-
- cmgantwerpen/varamplicnv:1.0.0
-
-
-
-
-
-
-
-
-
-
-
-
-**VarAmpliCNV : Counting**
-
-BAM files are parsed for readpairs exactly matching specified amplicons, based on start and end position.
-
-**Parameters are :**
-
-* Amplicon Design File (BED) : The de-duplicated amplicon list, generated by "varAmpliCNV Annotate".
-* Sample Data (BAM) : The sample read data, provided as a single BAM file, or a collection of BAM files.
-
-**Output files :**
-
-* Count file (txt): the amplicon-read table.
-* Unmapped (BAM) : Reads not matching amplicons. This bam file can be used to investigate issues.
-* Stats (txt): Overview of the matching performance. Use it to investigate issues.
-
-In case a collection of BAM files is provided, the output files will be grouped in collections as well.
-
-
-
diff -r febc6023d37b -r 5c324f9a4e20 varamplicnv-5bafb1c69d03/VarAmpliCNV_GC.xml
--- a/varamplicnv-5bafb1c69d03/VarAmpliCNV_GC.xml Fri Sep 25 08:29:36 2020 +0000
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,43 +0,0 @@
-
-
- cmgantwerpen/varamplicnv:1.0.0
-
-
-
-
-
-
-
-
-
-
-
-
-
-**VarAmpliCNV : GC-calculation**
-
-Calculate the GC-content of entries in a BED file.
-
-**Parameters are :**
-
-* Amplicon Design File (BED) : The de-duplicated amplicon list, generated by "varAmpliCNV Annotate".
-* Genome Build : Select a genome build from the configured options to extract GC content from.
-
-**Output files :**
-
-* GC-content (txt) : Tabular file containing GC information per region.
-
-
-
diff -r febc6023d37b -r 5c324f9a4e20 varamplicnv-5bafb1c69d03/VarAmpliCNV_MergeCounts.xml
--- a/varamplicnv-5bafb1c69d03/VarAmpliCNV_MergeCounts.xml Fri Sep 25 08:29:36 2020 +0000
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,39 +0,0 @@
-
-
- cmgantwerpen/varamplicnv:1.0.0
-
-
-
-
-
-
-
-
-
-
-**VarAmpliCNV : Merge Count files**
-
-Merge a list of count files from "varAmpliCNV Count" into a single cohort for CNV-calling.
-
-**Parameters are :**
-
-* Count file (txt) : A list or collection of count files from "varAmpliNCV Count".
-
-
-**Output files :**
-
-* Count-by-Sample Matrix (Rdata) : Rdata object containing counts for all provided samples.
-
-
diff -r febc6023d37b -r 5c324f9a4e20 varamplicnv-5bafb1c69d03/tool-data/TwoBit.loc.sample
--- a/varamplicnv-5bafb1c69d03/tool-data/TwoBit.loc.sample Fri Sep 25 08:29:36 2020 +0000
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,9 +0,0 @@
-# This file lists 2bit indices used for GC-computation in VarAmpliCNV
-
-# white space is TAB !
-
-# make sure to add the path to docker_volumes !
-
-#
-#
-#hg19 hg19 Human: hg19/GRCh37 /opt/NGS/References/hg19/2bit/hg19.2bit
diff -r febc6023d37b -r 5c324f9a4e20 varamplicnv-5bafb1c69d03/tool_data_table_conf.xml.sample
--- a/varamplicnv-5bafb1c69d03/tool_data_table_conf.xml.sample Fri Sep 25 08:29:36 2020 +0000
+++ /dev/null Thu Jan 01 00:00:00 1970 +0000
@@ -1,7 +0,0 @@
-
-
-