From b46b3f68b842e8506c70d37c3b8dc36ed4a9b27d Mon Sep 17 00:00:00 2001 From: Ahsan Date: Wed, 2 Jun 2021 15:53:07 -0400 Subject: [PATCH] removed unnecessary files, updated usage.md --- docs/Usage.md | 164 +++++++++++++++++- .../generate_SNP_pileups.cpython-36.pyc | Bin 15152 -> 0 bytes .../generate_indel_pileups.cpython-36.pyc | Bin 12939 -> 0 bytes .../__pycache__/indelCaller.cpython-36.pyc | Bin 5817 -> 0 bytes .../model_architect.cpython-36.pyc | Bin 5290 -> 0 bytes .../model_architect_indel.cpython-36.pyc | Bin 3828 -> 0 bytes scripts/__pycache__/snpCaller.cpython-36.pyc | Bin 7737 -> 0 bytes scripts/__pycache__/snpCaller.cpython-37.pyc | Bin 6195 -> 0 bytes scripts/__pycache__/utils.cpython-36.pyc | Bin 2179 -> 0 bytes scripts/__pycache__/utils.cpython-37.pyc | Bin 907 -> 0 bytes 10 files changed, 161 insertions(+), 3 deletions(-) delete mode 100644 scripts/__pycache__/generate_SNP_pileups.cpython-36.pyc delete mode 100644 scripts/__pycache__/generate_indel_pileups.cpython-36.pyc delete mode 100644 scripts/__pycache__/indelCaller.cpython-36.pyc delete mode 100644 scripts/__pycache__/model_architect.cpython-36.pyc delete mode 100644 scripts/__pycache__/model_architect_indel.cpython-36.pyc delete mode 100644 scripts/__pycache__/snpCaller.cpython-36.pyc delete mode 100644 scripts/__pycache__/snpCaller.cpython-37.pyc delete mode 100644 scripts/__pycache__/utils.cpython-36.pyc delete mode 100644 scripts/__pycache__/utils.cpython-37.pyc diff --git a/docs/Usage.md b/docs/Usage.md index fc471fb..33bddf8 100644 --- a/docs/Usage.md +++ b/docs/Usage.md @@ -86,6 +86,150 @@ python PATH_TO_NANOCALLER_REPOSITORY/scripts/NanoCaller_WGS.py ## General Usage Options ### Single Chromosome Variant Calling +``` +usage: NanoCaller.py [-h] [-mode MODE] [-seq SEQUENCING] [-cpu CPU] + [-mincov MINCOV] [-maxcov MAXCOV] [-keep_bam] [-o OUTPUT] + [-prefix PREFIX] [-sample SAMPLE] + [-include_bed INCLUDE_BED] [-exclude_bed EXCLUDE_BED] + [-start START] [-end END] [-p PRESET] -bam BAM -ref REF + -chrom CHROM [-snp_model SNP_MODEL] + [-min_allele_freq MIN_ALLELE_FREQ] + [-min_nbr_sites MIN_NBR_SITES] + [-nbr_t NEIGHBOR_THRESHOLD] [-sup] + [-indel_model INDEL_MODEL] [-ins_t INS_THRESHOLD] + [-del_t DEL_THRESHOLD] [-win_size WIN_SIZE] + [-small_win_size SMALL_WIN_SIZE] [-phase_bam] + [-enable_whatshap] + +optional arguments: + -h, --help show this help message and exit + +Required Arguments: + -bam BAM, --bam BAM Bam file, should be phased if 'indel' mode is selected + (default: None) + -ref REF, --ref REF Reference genome file with .fai index (default: None) + -chrom CHROM, --chrom CHROM + Chromosome (default: None) + +Preset: + -p PRESET, --preset PRESET + Apply recommended preset values for SNP and Indel + calling parameters, options are 'ont', 'ul_ont', + 'ul_ont_extreme', 'ccs' and 'clr'. 'ont' works well + for any type of ONT sequencing datasets. However, use + 'ul_ont' if you have several ultra-long ONT reads up + to 100kbp long, and 'ul_ont_extreme' if you have + several ultra-long ONT reads up to 300kbp long. For + PacBio CCS (HiFi) and CLR reads, use 'ccs'and 'clr' + respectively. Presets are described in detail here: gi + thub.com/WGLab/NanoCaller/blob/master/docs/Usage.md#pr + eset-options. (default: None) + +Configurations: + -mode MODE, --mode MODE + NanoCaller mode to run, options are 'snps', + 'snps_unphased', 'indels' and 'both'. 'snps_unphased' + mode quits NanoCaller without using WhatsHap for + phasing. (default: both) + -seq SEQUENCING, --sequencing SEQUENCING + Sequencing type, options are 'ont', 'ul_ont', + 'ul_ont_extreme', and 'pacbio'. 'ont' works well for + any type of ONT sequencing datasets. However, use + 'ul_ont' if you have several ultra-long ONT reads up + to 100kbp long, and 'ul_ont_extreme' if you have + several ultra-long ONT reads up to 300kbp long. For + PacBio CCS (HiFi) and CLR reads, use 'pacbio'. + (default: ont) + -cpu CPU, --cpu CPU Number of CPUs to use (default: 1) + -mincov MINCOV, --mincov MINCOV + Minimum coverage to call a variant (default: 8) + -maxcov MAXCOV, --maxcov MAXCOV + Maximum coverage of reads to use. If sequencing depth + at a candidate site exceeds maxcov then reads are + downsampled. (default: 160) + +Variant Calling Regions: + -include_bed INCLUDE_BED, --include_bed INCLUDE_BED + Only call variants inside the intervals specified in + the bgzipped and tabix indexed BED file. If any other + flags are used to specify a region, intersect the + region with intervals in the BED file, e.g. if -chom + chr1 -start 10000000 -end 20000000 flags are set, call + variants inside the intervals specified by the BED + file that overlap with chr1:10000000-20000000. Same + goes for the case when whole genome variant calling + flag is set. (default: None) + -exclude_bed EXCLUDE_BED, --exclude_bed EXCLUDE_BED + Path to bgzipped and tabix indexed BED file containing + intervals to ignore for variant calling. BED files of + centromere and telomere regions for the following + genomes are included in NanoCaller: hg38, hg19, mm10 + and mm39. To use these BED files use one of the + following options: ['hg38', 'hg19', 'mm10', 'mm39']. + (default: None) + -start START, --start START + start, default is 1 (default: None) + -end END, --end END end, default is the end of contig (default: None) + +SNP Calling: + -snp_model SNP_MODEL, --snp_model SNP_MODEL + NanoCaller SNP model to be used (default: ONT-HG002) + -min_allele_freq MIN_ALLELE_FREQ, --min_allele_freq MIN_ALLELE_FREQ + minimum alternative allele frequency (default: 0.15) + -min_nbr_sites MIN_NBR_SITES, --min_nbr_sites MIN_NBR_SITES + minimum number of nbr sites (default: 1) + -nbr_t NEIGHBOR_THRESHOLD, --neighbor_threshold NEIGHBOR_THRESHOLD + SNP neighboring site thresholds with lower and upper + bounds seperated by comma, for Nanopore reads + '0.4,0.6' is recommended, for PacBio CCS anc CLR reads + '0.3,0.7' and '0.3,0.6' are recommended respectively + (default: 0.4,0.6) + -sup, --supplementary + Use supplementary reads (default: False) + +Indel Calling: + -indel_model INDEL_MODEL, --indel_model INDEL_MODEL + NanoCaller indel model to be used (default: ONT-HG002) + -ins_t INS_THRESHOLD, --ins_threshold INS_THRESHOLD + Insertion Threshold (default: 0.4) + -del_t DEL_THRESHOLD, --del_threshold DEL_THRESHOLD + Deletion Threshold (default: 0.6) + -win_size WIN_SIZE, --win_size WIN_SIZE + Size of the sliding window in which the number of + indels is counted to determine indel candidate site. + Only indels longer than 2bp are counted in this + window. Larger window size can increase recall, but + use a maximum of 50 only (default: 40) + -small_win_size SMALL_WIN_SIZE, --small_win_size SMALL_WIN_SIZE + Size of the sliding window in which indel frequency is + determined for small indels (default: 4) + +Output Options: + -keep_bam, --keep_bam + Keep phased bam files. (default: False) + -o OUTPUT, --output OUTPUT + VCF output path, default is current working directory + (default: None) + -prefix PREFIX, --prefix PREFIX + VCF file prefix (default: variant_calls) + -sample SAMPLE, --sample SAMPLE + VCF file sample name (default: SAMPLE) + +Phasing: + -phase_bam, --phase_bam + Phase bam files if snps mode is selected. This will + phase bam file without indel calling. (default: False) + -enable_whatshap, --enable_whatshap + Allow WhatsHap to change SNP genotypes when phasing + using --distrust-genotypes and --include-homozygous + flags (this is not the same as regenotyping), + considerably increasing the time needed for phasing. + It has a negligible effect on SNP calling accuracy for + Nanopore reads, but may make a small improvement for + PacBio reads. By default WhatsHap will only phase SNP + calls produced by NanoCaller, but not change their + genotypes. (default: False) +``` ### Whole Genome Variant Calling ``` @@ -116,7 +260,15 @@ Preset: -p PRESET, --preset PRESET Apply recommended preset values for SNP and Indel calling parameters, options are 'ont', 'ul_ont', - 'ul_ont_extreme', 'ccs' and 'clr' (default: None) + 'ul_ont_extreme', 'ccs' and 'clr'. 'ont' works well + for any type of ONT sequencing datasets. However, use + 'ul_ont' if you have several ultra-long ONT reads up + to 100kbp long, and 'ul_ont_extreme' if you have + several ultra-long ONT reads up to 300kbp long. For + PacBio CCS (HiFi) and CLR reads, use 'ccs'and 'clr' + respectively. Presets are described in detail here: gi + thub.com/WGLab/NanoCaller/blob/master/docs/Usage.md#pr + eset-options. (default: None) Configurations: -mode MODE, --mode MODE @@ -126,7 +278,13 @@ Configurations: phasing. (default: both) -seq SEQUENCING, --sequencing SEQUENCING Sequencing type, options are 'ont', 'ul_ont', - 'ul_ont_extreme', and 'pacbio' (default: ont) + 'ul_ont_extreme', and 'pacbio'. 'ont' works well for + any type of ONT sequencing datasets. However, use + 'ul_ont' if you have several ultra-long ONT reads up + to 100kbp long, and 'ul_ont_extreme' if you have + several ultra-long ONT reads up to 300kbp long. For + PacBio CCS (HiFi) and CLR reads, use 'pacbio'. + (default: ont) -cpu CPU, --cpu CPU Number of CPUs to use (default: 1) -mincov MINCOV, --mincov MINCOV Minimum coverage to call a variant (default: 8) @@ -280,7 +438,7 @@ Preset `ccs` is equivalent to: --indel_model CCS-HG002 --neighbor_threshold '0.3,0.7' --ins_threshold 0.4 ---del_threshold +--del_threshold 0.4 --enable_whatshap ``` diff --git a/scripts/__pycache__/generate_SNP_pileups.cpython-36.pyc b/scripts/__pycache__/generate_SNP_pileups.cpython-36.pyc deleted file mode 100644 index dbdf95c9e1b925312a0d4de46983a6ba66d35b9f..0000000000000000000000000000000000000000 GIT binary patch literal 0 HcmV?d00001 literal 15152 zcmcgzO>i5>a^Bfp{15<15Try>{Ff++pr}7emSvmPlPz1epKV&U6e$m}gFu`m1rUFl zUD~9wNWCh`5q)rqFE6K*53Wj8s&Y+IKIV{@Ln=w7a^6EKRY|2v*PLFIALr|t1+d_c z1iS}_sGXgio}KRL?wRiCUS8_$jeYyeKmDD*JgaH{ss;WG)UV^R{{RKoI4f!yb!QnS zpY@C`??%RucQa$kdngl<_i!eRyIzcxqM0aD@AhP35*E)Sa5svq)SKy*FtgZK>d*9- zl9?o)6Fkf#k6C7bM|sa;xYT0XyG-15nWMREM;p<$ z8Q0gfQLSb?(N-BZxcNBh8gEg%#zSA~fS3{z4nSV#nuLTTBpQHR^C4jgi3K1(@*xok zNdzF*eMnS7`T~$Qd`ORk^amgsk4Oq)5|V6z^hiitLIzqOaS2ICNU8aH7_S_8vEe=Qyqeu3p*RziXEN99$g)R}C@S!quSwSC6#d3Uc*m0P?0k zTgBDk0OW=bQCuAfK;H5pimRgm$lE?darIaLa?^(-B_GBDkav8@fP{<(An*DRC5edu zq^>1O5|b?uB_kz?sRJNN64NaZCB0rr!AuK8jh2#-;|D+n50ajngtP_@m!g{je9)Js zUj8>o^8}=6ivMVl=4?QkCtGj_rFkj=%qG+%1Lt>{%d-jx94md`OI&6fj^k9~-e=G6e?6Ca|a z`APtCyM_O+1|S+&dz4yDuN?qUt7)kPqIR#uUj094=R#Y*+voPL>M%8TmIcg$mcR82 zOtSR<;Ujw^6mvRkxnSmWp}XS*et&*Ahe+Q5n`AO|4l@cBRY-(Yd8!WhGa% zuc1=!`;_{%OpPWir#6R*oZ9r>sd0u$woXsa@8BglM>(IgE~0o}^q@#H5u-ZIQ^ctt z3VU(+R6ZpO+!Z2{r$Gc!(k2mo0V2p1=n4_j%OHX%X_JWl01>2EEkralZ5$9Oj-h}! 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