11name : " quilt_quilt"
2- description : QUILT is an R and C++ program for rapid genotype imputation from low-coverage
3- sequence using a large reference panel.
2+ description : QUILT is an R and C++ program for rapid genotype imputation from
3+ low-coverage sequence using a large reference panel.
44keywords :
55 - imputation
66 - low-coverage
1515 documentation : " https://github.com/rwdavies/quilt"
1616 tool_dev_url : " https://github.com/rwdavies/quilt"
1717 doi : " 10.1038/s41588-021-00877-0"
18- licence : ["GPL v3"]
18+ licence :
19+ - " GPL v3"
1920 identifier : " "
2021input :
2122 - - meta :
@@ -35,86 +36,89 @@ input:
3536 ontologies : []
3637 - bamlist :
3738 type : file
38- description : (Optional) File with list of BAM/CRAM files to impute. One file
39- per line.
39+ description : (Optional) File with list of BAM/CRAM files to impute. One
40+ file per line.
4041 pattern : " *.{txt}"
4142 ontologies : []
4243 - samplename :
4344 type : file
44- description : (Optional) File with list of samples names in the same order as
45- in bamlist to impute. One file per line.
45+ description : (Optional) File with list of samples names in the same order
46+ as in bamlist to impute. One file per line.
4647 pattern : " *.{txt}"
4748 ontologies : []
4849 - reference_haplotype_file :
4950 type : file
50- description : (Mandatory) Reference haplotype file in IMPUTE format (file with
51- no header and no rownames, one row per SNP, one column per reference haplotype,
52- space separated, values must be 0 or 1)
51+ description : (Mandatory) Reference haplotype file in IMPUTE format (file
52+ with no header and no rownames, one row per SNP, one column per
53+ reference haplotype, space separated, values must be 0 or 1)
5354 pattern : " *.{hap.gz}"
5455 ontologies : []
5556 - reference_legend_file :
5657 type : file
57- description : (Mandatory) Reference haplotype legend file in IMPUTE format (file
58- with one row per SNP, and a header including position for the physical position
59- in 1 based coordinates, a0 for the reference allele, and a1 for the alternate
60- allele).
58+ description : (Mandatory) Reference haplotype legend file in IMPUTE format
59+ (file with one row per SNP, and a header including position for the
60+ physical position in 1 based coordinates, a0 for the reference allele,
61+ and a1 for the alternate allele).
6162 pattern : " *.{legend.gz}"
6263 ontologies : []
6364 - posfile :
6465 type : file
65- description : (Optional) File with positions of where to impute, lining up one-to-one
66- with genfile. File is tab separated with no header, one row per SNP, with
67- col 1 = chromosome, col 2 = physical position (sorted from smallest to largest),
68- col 3 = reference base, col 4 = alternate base. Bases are capitalized.
66+ description : (Optional) File with positions of where to impute, lining up
67+ one-to-one with genfile. File is tab separated with no header, one row
68+ per SNP, with col 1 = chromosome, col 2 = physical position (sorted from
69+ smallest to largest), col 3 = reference base, col 4 = alternate base.
70+ Bases are capitalized.
6971 pattern : " *.{txt}"
7072 ontologies : []
7173 - phasefile :
7274 type : file
73- description : (Optional) File with truth phasing results. Supersedes genfile
74- if both options given. File has a header row with a name for each sample,
75- matching what is found in the bam file. Each subject is then a tab separated
76- column, with 0 = ref and 1 = alt, separated by a vertical bar |, e.g. 0|0
77- or 0|1. Note therefore this file has one more row than posfile which has no
78- header.
75+ description : (Optional) File with truth phasing results. Supersedes
76+ genfile if both options given. File has a header row with a name for
77+ each sample, matching what is found in the bam file. Each subject is
78+ then a tab separated column, with 0 = ref and 1 = alt, separated by a
79+ vertical bar |, e.g. 0|0 or 0|1. Note therefore this file has one more
80+ row than posfile which has no header.
7981 pattern : " *.{txt}"
8082 ontologies : []
8183 - genfile :
8284 type : file
83- description : (Optional) Path to gen file with high coverage results. Empty for
84- no genfile. If both genfile and phasefile are given, only phasefile is used,
85- as genfile (unphased genotypes) is derivative to phasefile (phased genotypes).
86- File has a header row with a name for each sample, matching what is found
87- in the bam file. Each subject is then a tab seperated column, with 0 = hom
88- ref, 1 = het, 2 = hom alt and NA indicating missing genotype, with rows corresponding
89- to rows of the posfile. Note therefore this file has one more row than posfile
90- which has no header [default \"\"]
85+ description : (Optional) Path to gen file with high coverage results. Empty
86+ for no genfile. If both genfile and phasefile are given, only phasefile
87+ is used, as genfile (unphased genotypes) is derivative to phasefile
88+ (phased genotypes). File has a header row with a name for each sample,
89+ matching what is found in the bam file. Each subject is then a tab
90+ seperated column, with 0 = hom ref, 1 = het, 2 = hom alt and NA
91+ indicating missing genotype, with rows corresponding to rows of the
92+ posfile. Note therefore this file has one more row than posfile which
93+ has no header [default \"\"]
9194 pattern : " *.{txt}"
9295 ontologies : []
9396 - chr :
9497 type : string
9598 description : (Mandatory) What chromosome to run. Should match BAM headers.
9699 - regions_start :
97100 type : integer
98- description : (Mandatory) When running imputation, where to start from. The 1-based
99- position x is kept if regionStart <= x <= regionEnd.
101+ description : (Mandatory) When running imputation, where to start from. The
102+ 1-based position x is kept if regionStart <= x <= regionEnd.
100103 - regions_end :
101104 type : integer
102105 description : (Mandatory) When running imputation, where to stop.
103106 - ngen :
104107 type : integer
105- description : Number of generations since founding or mixing. Note that the algorithm
106- is relatively robust to this. Use nGen = 4 * Ne / K if unsure.
108+ description : Number of generations since founding or mixing. Note that the
109+ algorithm is relatively robust to this. Use nGen = 4 * Ne / K if unsure.
107110 - buffer :
108111 type : integer
109- description : Buffer of region to perform imputation over. So imputation is run
110- form regionStart-buffer to regionEnd+buffer, and reported for regionStart
111- to regionEnd, including the bases of regionStart and regionEnd.
112+ description : Buffer of region to perform imputation over. So imputation is
113+ run form regionStart-buffer to regionEnd+buffer, and reported for
114+ regionStart to regionEnd, including the bases of regionStart and
115+ regionEnd.
112116 - genetic_map :
113117 type : file
114- description : (Optional) File with genetic map information, a file with 3 white-space
115- delimited entries giving position (1-based), genetic rate map in cM/Mbp, and
116- genetic map in cM. If no file included, rate is based on physical distance
117- and expected rate (expRate).
118+ description : (Optional) File with genetic map information, a file with 3
119+ white-space delimited entries giving position (1-based), genetic rate
120+ map in cM/Mbp, and genetic map in cM. If no file included, rate is based
121+ on physical distance and expected rate (expRate).
118122 pattern : " *.{txt,map}{,gz}"
119123 ontologies : []
120124 - - meta2 :
@@ -141,8 +145,8 @@ output:
141145 e.g. [ id:'test', single_end:false ]
142146 - " *.vcf.gz " :
143147 type : file
144- description : VCF file with both SNP annotation information and per-sample
145- genotype information.
148+ description : VCF file with both SNP annotation information and
149+ per-sample genotype information.
146150 pattern : " *.{vcf.gz}"
147151 ontologies : []
148152 tbi :
@@ -162,7 +166,7 @@ output:
162166 description : |
163167 Groovy Map containing sample information
164168 e.g. [ id:'test', single_end:false ]
165- - " RData " :
169+ - RData :
166170 type : directory
167171 description : |
168172 Folder of RData objects generated during the imputation process.
@@ -173,18 +177,51 @@ output:
173177 description : |
174178 Groovy Map containing sample information
175179 e.g. [ id:'test', single_end:false ]
176- - " plots " :
180+ - plots :
177181 type : directory
178182 description : |
179183 Folder of plots generated during the imputation process.
180184 pattern : " plots"
185+ versions_r_quilt :
186+ - - ${task.process} :
187+ type : string
188+ description : The name of the process
189+ - r-quilt :
190+ type : string
191+ description : The name of the tool
192+ - Rscript -e "cat(as.character(packageVersion('QUILT')))" :
193+ type : eval
194+ description : The expression to obtain the version of the tool
195+ versions_r_base :
196+ - - ${task.process} :
197+ type : string
198+ description : The name of the process
199+ - r-base :
200+ type : string
201+ description : The name of the tool
202+ - R --version | sed "1!d; s/.*version //; s/ .*//" :
203+ type : eval
204+ description : The expression to obtain the version of the tool
205+ topics :
181206 versions :
182- - versions.yml :
183- type : file
184- description : File containing software versions
185- pattern : " versions.yml"
186- ontologies :
187- - edam : http://edamontology.org/format_3750 # YAML
207+ - - ${task.process} :
208+ type : string
209+ description : The name of the process
210+ - r-quilt :
211+ type : string
212+ description : The name of the tool
213+ - Rscript -e "cat(as.character(packageVersion('QUILT')))" :
214+ type : eval
215+ description : The expression to obtain the version of the tool
216+ - - ${task.process} :
217+ type : string
218+ description : The name of the process
219+ - r-base :
220+ type : string
221+ description : The name of the tool
222+ - R --version | sed "1!d; s/.*version //; s/ .*//" :
223+ type : eval
224+ description : The expression to obtain the version of the tool
188225authors :
189226 - " @atrigila"
190227maintainers :
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