PSEQ command/option reference table
| Command | Options | Description |
|---|---|---|
| append | add a file to the project | --file { str-list } generic input file(s) --name { str-list } generic name(s) variable --type { str } type of project entry |
| assoc | gene-based association tests | --fix-null { flag } exclude individuals with null genotypes --info { flag } report ISTAT in association test --midpoint { flag } report interval BP mid-point in output --perm { int } number of permutations --phenotype { str-list } phenotype specification --tests { keyword } gene-based tests calpha { flag } c-alpha test fw { flag } frequency-weighted test no-burden { flag } do not apply basic burden test sumstat { flag } sum-statistic test uniq { flag } burden of case-unique variants vt { flag } variable threshold test |
| attach-meta | load meta-information for existing VARDB variants | --file { str-list } generic input file(s) --group { str-list } generic group label(s) --id { int-list } generic numeric IDs |
| clusters | . | |
| commands | list commands/groups | |
| concordance | genotypic concordance checks | --report-all { flag } . |
| counts | summary/count statistics | --name { str-list } generic name(s) variable --output-vcf { flag } summary counts in VCF format |
| delete-meta | remove meta-information | --group { str-list } generic group label(s) |
| denovo | filter for de-novo mutations | --param { float-list } parameter list |
| drop | drop a file from the project | --file { str-list } generic input file(s) --name { str-list } generic name(s) variable --type { str } type of project entry |
| file-summary | summary of project files | --ugly { flag } do not format summary output |
| g-counts | genotype summary/count statistics | --name { str-list } generic name(s) variable --output-vcf { flag } summary counts in VCF format |
| g-matrix | write a matix of gene-based allele counts | --collapse { flag } . --hide-invariant { flag } . |
| g-meta-matrix | matix of gene-based per-individual meta-information | --name { str-list } generic name(s) variable |
| g-stats | gene-based summary statistics | --stats { keyword } quantitaties calculated under (v|g|i)-stats |
| g-view | view variants grouped by gene | --geno { flag } show genotypes --gmeta { flag } show genotype meta-information --phenotype { str-list } phenotype specification --rarelist { flag } rare-list mode for v-view --transpose { flag } transposed g-view output --verbose { flag } verbose output --vmeta { flag } show variant meta-information |
| glm | general linear models | --covar { str-list } covariate(s) --perm { int } number of permutations --phenotype { str-list } phenotype specification --show-covar { flag } list coefficients for covariates --use-dosages { str } genotypes are dosages in specified tag --use-postprobs { str } genotype are posterior probabilities in specified tag --vmeta { flag } show variant meta-information |
| group-comparison | . | |
| gs-view | view gene variants in sequence | --ref-variants { str } . |
| i-stats | per-individual statistics | --stats { keyword } quantitaties calculated under (v|g|i)-stats |
| i-view | individuals in project/file | --from-vardb { flag } list individuals from VARDB, not INDDB --pheno . |
| ibd-load | load IBD segment data | --file { str-list } generic input file(s) --ibddb { str } IBD segment database location |
| ibd-sharing | pairwise IBD sharing around rare variants | --ibddb { str } IBD segment database location |
| ibs-matrix | IBS matrix calculation | --long-format { flag } output one row per line (instead of n-by-n matrix) --two-counts { flag } only consider variants seen twice in the sample |
| ind-summary | summary of INDDB | --ugly { flag } do not format summary output |
| index-bcf | add index to VARDB for a BCF | --bcf { str-list } BCF file locations |
| index-vcf | add index to VARDB for a BGZF-compressed VCF | --vcf { str-list } VCF file locations |
| intersect | intersect locus groups | --file { str-list } generic input file(s) --group { str-list } generic group label(s) |
| load-pedigree | load pedigree information into INDDB | --file { str-list } generic input file(s) |
| load-pheno | load phenotypes into INDB | --file { str-list } generic input file(s) |
| load-plink | load a PLINK binary PED file (BED) | --check-reference { flag } loading/indexing VCFs, report if REF != SEQDB --fid { flag } use FID as ID when reading PLINK files --file { str-list } generic input file(s) --fix-strand { flag } fix strand given a SEQDB when loading a PLINK GWAS file --id { int-list } generic numeric IDs --iid { flag } use IID as ID when reading PLINK files |
| load-vcf | load all VCF files not already in VARDB | --exclude-meta . --file { str-list } generic input file(s) --filter { str } loading VCF, only load variants in specified LOCDB group --include-meta . --vcf { str-list } VCF file locations |
| load-weights | load weight table | --file { str-list } generic input file(s) --name { str-list } generic name(s) variable |
| loc-annotate | annotate loci | --group { str-list } generic group label(s) --show-subregions { flag } modifies loc-view output |
| loc-delete | remove a LOCDB group | --group { str-list } generic group label(s) |
| loc-delete-alias | remove gene-alias table | |
| loc-delete-special | remove all special variables from a LOCDB | |
| loc-drop-index | remove index from LOCDB | |
| loc-get-special | get special variable(s) from a LOCDB | --key { str } key of key-value pair |
| loc-index | index a LOCDB | |
| loc-intersect | view loci from a LOCDB group with 1 or more variants | |
| loc-load | load from a .GTF or .REG file into LOCDB | --file { str-list } generic input file(s) --group { str-list } generic group label(s) --keep-unmerged { flag } retain unmerged region group when loading GTF |
| loc-load-alias | load a gene-alias table | --file { str-list } generic input file(s) |
| loc-merge | merge a LOCDB group | --group { str-list } generic group label(s) |
| loc-overlap | show loci in groups Y, Z that overlap each locus in X | --alias { str-list } locus alias group(s) --comma . --group { str-list } generic group label(s) --row . --tab . |
| loc-set-special | set special variable in a LOCDB | --key { str } key of key-value pair --value { str-list } value(s) of key-value pair |
| loc-stats | locus-based stats | --loc-group { str } LOCDB group label --no-subregions { flag } modifies loc-view output --ref-group { str } REFDB group label --show-subregions { flag } modifies loc-view output |
| loc-summary | summary of LOCDB | --ugly { flag } do not format summary output |
| loc-swap-names | swap LOCDB names | --alternate-name { flag } use LOCDB alternate name (e.g. gene symbol) --file { str-list } generic input file(s) --group { str-list } generic group label(s) |
| loc-translate | AA sequence of loci | |
| loc-update-name-table | update LOCDB name table | --alternate-name { flag } use LOCDB alternate name (e.g. gene symbol) --group { str-list } generic group label(s) --index-name { flag } use LOCDB primary/index name (e.g. transcript ID) |
| loc-view | show all loci in a LOCDB group | --alias { str-list } locus alias group(s) --group { str-list } generic group label(s) --no-meta { flag } do not show locus meta-information --show-subregions { flag } modifies loc-view output |
| locset-load | load a locus-set | --alternate-name { flag } use LOCDB alternate name (e.g. gene symbol) --file { str-list } generic input file(s) --group { str-list } generic group label(s) --name { str-list } generic name(s) variable |
| lookup | lookup various annotatations for a list of positions | --alias { str-list } locus alias group(s) --annotate { str } annotate variants --loc { str-list } transcript group --ref { str-list } reference-variant group |
| masks | list mask options | |
| meta-matrix | write a matrix of variant meta-information | |
| meta-summary | summary of variant meta-information | --ugly { flag } do not format summary output |
| mrv-view | view multiple rare variants | |
| mutation-screen | screen for new mutations given shared IBD | --ibddb { str } IBD segment database location --indiv { str-list } specify individual(s) --region { str-list } region(s) |
| mv-view | view multiple variants | |
| net-assoc | network-based gene-association | --file { str-list } generic input file(s) --netdb { str } network database location --output { keyword } general output format modifiers --pheno . |
| net-load | populate a NETDB | --file { str-list } generic input file(s) --netdb { str } network database location |
| net-view | view gene connections in a NETDB | --group { str-list } generic group label(s) --name { str-list } generic name(s) variable --netdb { str } network database location |
| new-project | set a new project | --inddb { str } individual database location --locdb { str } locus database location --metameta { str } meta-information meta-information --output { keyword } general output format modifiers --refdb { str } reference database location --resources { str } central resource folder --scratch { str } scratch folder --seqdb { str } sequence database location --vardb { str } variant database location --vcf { str-list } VCF file locations |
| proximity-scan | VCF | --distance { flag } . |
| ref-load | load data (VCF or flat-file) into REFDB | --file { str-list } generic input file(s) --group { str-list } generic group label(s) --vcf { str-list } VCF file locations |
| ref-summary | summary of REFDB | --ugly { flag } do not format summary output |
| ref-view | view a group from a REFDB | --group { str-list } generic group label(s) --vmeta { flag } show variant meta-information |
| reload-vcf | clear VARDB, then reload all VCF (not implemented yet) | |
| rv-view | view rare alleles | --pheno . |
| s-assoc | segment-based IBD test | --file { str-list } generic input file(s) --perm { int } number of permutations |
| score-weights | score variants for weights | --name { str-list } generic name(s) variable |
| seg-summary | summary of SEQDB | --ugly { flag } do not format summary output |
| seg-view | individual segments | --group { str-list } generic group label(s) |
| seq-load | load FASTA into SEQDB | --. . --description { str } file description --file { str-list } generic input file(s) --format { keyword } . build { str } . iupac { flag } . repeat-mode { str } . --name { str-list } generic name(s) variable |
| seq-summary | summary of SEQDB | --ugly { flag } do not format summary output |
| seq-view | view regions of sequence from SEQDB | --compact { flag } compact seq-view output --region { str-list } region(s) |
| set-enrich | test per individual for greater-than-expected burden of variants per set | --locset { str-list } locus-set group --perm { int } number of permutations --phenotype { str-list } phenotype specification |
| simple-sim | simple gene variant simulation | |
| summary | summary of all databases | --ugly { flag } do not format summary output |
| tag-file | add file-tags to VARDB | --id { int-list } generic numeric IDs --name { str-list } generic name(s) variable |
| unique | view variants specific to individual groups | --allow { int } allow N individuals without variant --indiv { str-list } specify individual(s) --require { int } require N individuals with variant |
| v-assoc | single-variant association | --fix-null { flag } exclude individuals with null genotypes --info { flag } report ISTAT in association test --perm { int } number of permutations --phenotype { str-list } phenotype specification --separate-chr-bp { flag } report CHR-tab-BP not chr:BP --vmeta { flag } show variant meta-information |
| v-dist | comparison of rare-variant group distributions | --perm { int } number of permutations --whole-sample-counts { flag } . |
| v-freq | variant frequency data | --em { float } EM calculation of P(geno|data) from GL or PL |
| v-matrix | write a matrix of allele counts | |
| v-meta-matrix | write a matrix of individual genotype meta-information | --name { str-list } generic name(s) variable |
| v-stats | variant statistics | --stats { keyword } quantitaties calculated under (v|g|i)-stats count { str-list } arbirary tag range counts dp { int-range-vector } variant read-depth counts gcount { str-list } genotype tag range counts gmean { str-list } genotype tag means hwe { float-range-vector } HWE test p-values mac { int-range-vector } MAC range counts maf { float-range-vector } MAF range counts mean { str-list } arbitrary mean tag values qual { float-range-vector } QUAL range counts |
| v-view | view variant data | --geno { flag } show genotypes --gmeta { flag } show genotype meta-information --hide-null { flag } . --only-alt { flag } . --only-minor { flag } . --pheno . --samples { flag } show each specific sample variant --simple { flag } simple variant format, POS RET ALT --verbose { flag } verbose output --vmeta { flag } show variant meta-information |
| vacuum | clean-up unused disk-space in VARDB | |
| var-delete | remove file from VARDB | --id { int-list } generic numeric IDs |
| var-drop-all-sets | drop all sets from a VARDB | |
| var-drop-all-supersets | drop all supersets from a VARDB | |
| var-drop-set | drop a set from a VARDB | |
| var-drop-superset | drop a superset from a VARDB | |
| var-set | add a variant-set to a VARDB | --file { str-list } generic input file(s) --group { str-list } generic group label(s) |
| var-summary | summary of VARDB | --ugly { flag } do not format summary output |
| var-superset | add a super-set to a VARDB | --file { str-list } generic input file(s) --group { str-list } generic group label(s) --members { str-list } super-set members |
| version | display version information | |
| write-bcf | output from VARDB to BCF | --bcf { str-list } BCF file locations |
| write-haps | write a MaCH format haplotype file | |
| write-lik | write a BEALGE likelihood file | |
| write-ped | write a new PLINK TPED fileset | --name { str-list } generic name(s) variable --use-family-id . |
| write-vardb | write a new VARDB | --new-project { str } new project specification filename --new-vardb { str } new VARDB name, for write-vardb |
PSEQ Options Reference
| Auxillary option | Abbreviation | Description |
|---|---|---|
| --help | Produce a help message | |
| --vcf | VCF file locations | |
| --bcf | BCF file locations | |
| --resources | Central resource folder | |
| --scratch | Scratch folder | |
| --metameta | Meta-information meta-information | |
| --vardb | Variant database location | |
| --inddb | Individual database location | |
| --refdb | Reference database location | |
| --seqdb | Sequence database location | |
| --segdb | Segent database location | |
| --locdb | Locus database location | |
| --file | Generic input file(s) | |
| --group | Generic group label(s) | |
| --region | Region(s) | |
| --alias | Locus alias group(s) | |
| --name | Generic name(s) variable | |
| --type | Type of project entry | |
| --id | Generic numeric IDs | |
| --options | Context-specific options | |
| --output | Output folder | |
| --whitespace | Allow whitespace delimited input | |
| --debug | Set debug mode | |
| --silent | Set silent mode | |
| --ignore-warnings | Turn off warnings | |
| --out-file | Set main output file | |
| --out-file | Debug file name | |
| --prolix-file | Prolix output filename | |
| --long | Set long output mode | |
| --long-header | Set header/long output mode | |
| --mask | Mask specification | |
| --gene | gene-group gene1 gene2 … | |
| --hide | Hide specific meta-fields | |
| --show | Show specific meta-fields | |
| --vmeta | Show variant meta-information | |
| --samples | Show specific sample variants in v-view | |
| --verbose | Verbose output | |
| --geno | Show genotypes (g-view) | |
| --gmeta | Show genotype meta-information | |
| --transpose | Transposed g-view output | |
| --variant | Show specific variant (v-view) | |
| --indiv | Specify individual(s) | |
| --annot | Transcript(s) group for annotation | |
| --phenotype | Phenotype specification | |
| --make-phenotype | Dichotomise factor | |
| --strata | Stratifier variable | |
| --covar | Covariate(s) | |
| --perm | Number of permutations | |
| --a-perm | Adaptive perm min, max |
PSEQ Mask Reference
| Mask option | Description |
|---|---|
| var | |
| var.subset | |
| var.skip | |
| var.ex | |
| var.req | |
| loc | |
| loc.subset | |
| loc.skip | |
| loc.ex | |
| loc.req | |
| gene | |
| locset | |
| locset.subset | |
| locset.skip | |
| locset.ex | |
| locset.req | |
| ref | |
| ref.ex | |
| ref.req | |
| file | |
| file.ex | |
| obs.file | |
| obs.file.req | |
| obs.file.ex | |
| alt.file | |
| alt.file.req | |
| alt.file.ex | |
| alt.group | |
| alt.group.req | |
| alt.group.ex | |
| obs.nfile | |
| alt.nfile | |
| fail.nfile | |
| reg | |
| reg.ex | |
| reg.req | |
| filter | |
| filter.ex | |
| filter.req | |
| any.filter | |
| any.filter.ex | |
| any.filter.req | |
| biallelic | |
| biallelic.ex | |
| monomorphic | |
| monomorphic.ex | |
| meta.attach | |
| meta | |
| meta.req | |
| geno | |
| geno.req | |
| mac | |
| hwe | |
| maf | |
| null | |
| qual | |
| assume-ref | |
| downcode | |
| collapse | |
| overlap-merge | |
| case.control | |
| case.uniq | |
| control.uniq | |
| em | |
| var.append | |
| loc.append | |
| locset.append | |
| ref.append | |
| annot | |
| annot.ex | |
| annot.req | |
| annot.append | |
| indiv | |
| indiv.ex | |
| phe.obs | |
| phe.allowe.missing | |
| phe | |
| phe.ex | |
| phe.req | |
| var.group | |
| loc.group | |
| reg.group | |
| locset.group | |
| fail.single.file | |
| empty.group | |
| limit | |
| v-include | |
| ex-vcf |