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Merge pull request #178 from LCR-BCCRC/module/ichorcna/1.0
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Module/ichorcna/1.0
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rdmorin authored May 4, 2021
2 parents c3bed01 + ad9c362 commit b701fff
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10 changes: 7 additions & 3 deletions demo/Snakefile
Original file line number Diff line number Diff line change
Expand Up @@ -41,7 +41,7 @@ configfile: "../modules/lofreq/1.0/config/default.yaml"
configfile: "../modules/starfish/2.0/config/default.yaml"
configfile: "../modules/sage/1.0/config/default.yaml"
configfile: "../modules/slms_3/1.0/config/default.yaml"

configfile: "../modules/ichorcna/1.0/config/default.yaml"

# Load project-specific config, which includes the shared
# configuration and some module-specific config updates
Expand Down Expand Up @@ -76,7 +76,7 @@ include: "../modules/controlfreec/1.1/controlfreec.smk"
include: "../modules/lofreq/1.0/lofreq.smk"
include: "../modules/starfish/2.0/starfish.smk"
include: "../modules/sage/1.0/sage.smk"

include: "../modules/ichorcna/1.0/ichorcna.smk"

##### TARGETS ######

Expand All @@ -91,9 +91,13 @@ rule all:
rules._lofreq_all.input,
rules._strelka_all.input,
rules._bwa_mem_all.input,
rules._liftover_all.input,
rules._controlfreec_all.input,
rules._gridss_all.input,
rules._controlfreec_all.input,
rules._starfish_all.input,
rules._vcf2maf_all.input,
rules._sage_all.input,
rules._slms_3_all.input
rules._slms_3_all.input,
rules._ichorcna_all.input

11 changes: 11 additions & 0 deletions demo/config.yaml
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Expand Up @@ -139,6 +139,17 @@ lcr-modules:
inputs:
sample_bam: "data/{sample_id}.bam"
sample_bai: "data/{sample_id}.bam.bai"

liftover:
tool: "battenberg"
inputs:
sample_seg: "data/{tool}/hg38/{tumour_sample_id}--{normal_sample_id}_subclones.igv.seg"

ichorcna:
inputs:
sample_bam: "data/{sample_id}.bam"
sample_bai: "data/{sample_id}.bam.bai"

scratch_subdirectories: [] # mpileup should be in scratch space

starfish:
Expand Down
107 changes: 107 additions & 0 deletions modules/ichorcna/1.0/config/default.yaml
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@@ -0,0 +1,107 @@
lcr-modules:

ichorcna:

inputs:
# Available wildcards: {seq_type} {genome_build} {sample_id}
sample_bam: "__UPDATE__"
sample_bai: "__UPDATE__"


scratch_subdirectories: []

options:
readcounter:
qual: 20 # only includes reads with mapping quality greater than 20
binSize: 1000000 # set window size to compute coverage
# available binSizes are: 1000000, 500000, 50000, 10000
run:
ichorCNA_libdir: ""
ichorCNA_rscript: "{MODSDIR}/src/runIchorCNA.R"
# use panel matching same bin size (optional)
ichorCNA_normalPanel:
"1000000": "inst/extdata/HD_ULP_PoN_{genome_build}_1Mb_median_normAutosome_median.rds"
"500000": "inst/extdata/HD_ULP_PoN_{genome_build}_500kb_median_normAutosome_median.rds"
# must use gc wig file corresponding to same binSize (required)
ichorCNA_gcWig:
"1000000": "inst/extdata/gc_{genome_build}_1000kb.wig"
"500000": "inst/extdata/gc_{genome_build}_500kb.wig"
"50000": "inst/extdata/gc_{genome_build}_50kb.wig"
"10000": "inst/extdata/gc_{genome_build}_10kb.wig"
# must use map wig file corresponding to same binSize (required)
ichorCNA_mapWig:
"1000000": "inst/extdata/map_{genome_build}_1000kb.wig"
"500000": "inst/extdata/map_{genome_build}_500kb.wig"
"50000": "inst/extdata/map_{genome_build}_50kb.wig"
"10000": "inst/extdata/map_{genome_build}_10kb.wig"
# use bed file if sample has targeted regions, eg. exome data (optional)
ichorCNA_exons: NULL
ichorCNA_centromere:
grch37: "inst/extdata/GRCh37.p13_centromere_UCSC-gapTable.txt"
hg19: "inst/extdata/GRCh37.p13_centromere_UCSC-gapTable.txt"
hs37d5: "inst/extdata/GRCh37.p13_centromere_UCSC-gapTable.txt"
grch38: "inst/extdata/GRCh38.GCA_000001405.2_centromere_acen.txt"
hg38: "inst/extdata/GRCh38.GCA_000001405.2_centromere_acen.txt"
ichorCNA_minMapScore: 0.75
ichorCNA_fracReadsInChrYForMale: 0.002 # Threshold for fraction of reads in chrY to assign as male
ichorCNA_genomeStyle: # can set this to UCSC or NCBI
grch37: "NCBI"
hg19: "NCBI"
hs37d5: "NCBI"
grch38: "UCSC"
hg38: "UCSC"
# chrs used for training ichorCNA parameters, e.g. tumor fraction.
ichorCNA_chrTrain:
grch37: "c(1:22)"
hg19: "c(1:22)"
hs37d5: "c(1:22)"
grch38: "paste0('chr', c(1:22))"
hg38: "paste0('chr', c(1:22))"
# non-tumor fraction parameter restart values; higher values should be included for cfDNA
ichorCNA_normal: "c(0.5,0.6,0.7,0.8,0.9,0.95)"
# ploidy parameter restart values
ichorCNA_ploidy: "c(2,3,4)"
ichorCNA_estimateNormal: TRUE
ichorCNA_estimatePloidy: TRUE
ichorCNA_estimateClonality: TRUE
# states to use for subclonal CN
ichorCNA_scStates: "c(1,3)"
# set maximum copy number to use
ichorCNA_maxCN: 5
# TRUE/FALSE to include homozygous deletion state # FALSE for low coverage libraries (ex. 0.1x) ; can turn on for higher coverage data (ex. >10x)
ichorCNA_includeHOMD: FALSE
# Exclude solutions if total length of subclonal CNAs > this fraction of the genome
ichorCNA_maxFracGenomeSubclone: 0.5
# Exclude solutions if total length of subclonal CNAs > this fraction of total CNA length
ichorCNA_maxFracCNASubclone: 0.7
# control segmentation - higher (e.g. 0.9999999) leads to higher specificity and fewer segments
# lower (e.g. 0.99) leads to higher sensitivity and more segments
ichorCNA_txnE: 0.9399999
# control segmentation - higher (e.g. 10000000) leads to higher specificity and fewer segments
# lower (e.g. 100) leads to higher sensitivity and more segments
ichorCNA_txnStrength: 10000
ichorCNA_plotFileType: "pdf"
ichorCNA_plotYlim: "c(-2,2)"


conda_envs:
ichorcna: "{MODSDIR}/envs/ichorcna.env.yaml"
hmmcopy_utils: "{MODSDIR}/envs/hmmcopy_utils.env.yaml"

threads:
readcounter: 4
run: 4

resources:
readcounter:
mem_mb: 2000
bam: 1
run:
mem_mb: 2000
bam: 1

pairing_config:
genome:
run_paired_tumours: False
run_unpaired_tumours_with: "no_normal"
run_paired_tumours_as_unpaired: True
108 changes: 108 additions & 0 deletions modules/ichorcna/1.0/envs/ichorcna.env.yaml
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@@ -0,0 +1,108 @@
name: null
channels:
- conda-forge
- dranew
- bioconda
- defaults
- r
dependencies:
- _libgcc_mutex=0.1
- _openmp_mutex=4.5
- _r-mutex=1.0.1
- binutils_impl_linux-64=2.35.1
- binutils_linux-64=2.35
- bioconductor-biocgenerics=0.36.0
- bioconductor-genomeinfodb=1.26.0
- bioconductor-genomeinfodbdata=1.2.4
- bioconductor-genomicranges=1.42.0
- bioconductor-hmmcopy=1.32.0
- bioconductor-iranges=2.24.0
- bioconductor-s4vectors=0.28.0
- bioconductor-xvector=0.30.0
- bioconductor-zlibbioc=1.36.0
- bwidget=1.9.14
- bzip2=1.0.8
- ca-certificates=2020.12.5
- cairo=1.16.0
- curl=7.71.1
- fontconfig=2.13.1
- freetype=2.10.4
- fribidi=1.0.10
- gcc_impl_linux-64=9.3.0
- gcc_linux-64=9.3.0
- gettext=0.19.8.1
- gfortran_impl_linux-64=9.3.0
- gfortran_linux-64=9.3.0
- graphite2=1.3.13
- gsl=2.6
- gxx_impl_linux-64=9.3.0
- gxx_linux-64=9.3.0
- harfbuzz=2.8.0
- hmmcopy_utils=0.0.1
- icu=68.1
- jpeg=9d
- kernel-headers_linux-64=2.6.32
- krb5=1.17.2
- ld_impl_linux-64=2.35.1
- libblas=3.8.0
- libcblas=3.8.0
- libcurl=7.71.1
- libedit=3.1.20191231
- libffi=3.3
- libgcc-devel_linux-64=9.3.0
- libgcc-ng=9.3.0
- libgfortran-ng=9.3.0
- libgfortran5=9.3.0
- libglib=2.66.7
- libgomp=9.3.0
- libiconv=1.16
- liblapack=3.8.0
- libopenblas=0.3.10
- libpng=1.6.37
- libssh2=1.9.0
- libstdcxx-devel_linux-64=9.3.0
- libstdcxx-ng=9.3.0
- libtiff=4.2.0
- libuuid=2.32.1
- libwebp-base=1.2.0
- libxcb=1.13
- libxml2=2.9.10
- lz4-c=1.9.3
- make=4.3
- ncurses=6.2
- openssl=1.1.1j
- pango=1.42.4
- pcre=8.44
- pcre2=10.36
- pixman=0.40.0
- pthread-stubs=0.4
- r-base=4.0.3
- r-bitops=1.0_6
- r-data.table=1.14.0
- r-getopt=1.20.3
- r-ichorcna=0.2.0
- r-optparse=1.6.6
- r-plyr=1.8.6
- r-rcpp=1.0.6
- r-rcurl=1.98_1.2
- readline=8.0
- sed=4.8
- sysroot_linux-64=2.12
- tk=8.6.10
- tktable=2.10
- xorg-kbproto=1.0.7
- xorg-libice=1.0.10
- xorg-libsm=1.2.3
- xorg-libx11=1.7.0
- xorg-libxau=1.0.9
- xorg-libxdmcp=1.1.3
- xorg-libxext=1.3.4
- xorg-libxrender=0.9.10
- xorg-libxt=1.2.1
- xorg-renderproto=0.11.1
- xorg-xextproto=7.3.0
- xorg-xproto=7.0.31
- xz=5.2.5
- zlib=1.2.11
- zstd=1.4.9
prefix: /projects/rmorin/projects/tumour_contam/envs/ichorcna
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