| | 10 | |
| | 11 | == Documentation == |
| | 12 | From the ImputationTool help screen: |
| | 13 | |
| | 14 | {{{ |
| | 15 | ImputationTool v0.2 |
| | 16 | |
| | 17 | |
| | 18 | ------------------------ |
| | 19 | PreProcessing |
| | 20 | ------------------------ |
| | 21 | |
| | 22 | # Create random batches of cases and controls from a TriTyper dataset. Creates a file called batches.txt in outdir. |
| | 23 | --mode batch --in TriTyperdir --out outdir --size batchsize |
| | 24 | |
| | 25 | ------------------------ |
| | 26 | Imputation |
| | 27 | ------------------------ |
| | 28 | |
| | 29 | # Convert Impute Imputed data into TriTyper |
| | 30 | --mode itt --in ImputeDir --out TriTyperDir |
| | 31 | ------------------------ |
| | 32 | Beagle |
| | 33 | ------------------------ |
| | 34 | |
| | 35 | # Convert beagle files (one file/chromosome) to TriTyper. Filetemplate is a template for the batch filenames, The text CHROMOSOME will be replaced by the chromosome number. |
| | 36 | --mode btt --in BeagleDir --tpl template --ext ext --out TriTyperDir [--fam famfile] |
| | 37 | |
| | 38 | # Convert batches of beagle files (multiple files / chromosome) to trityper files. Filetemplate is a template for the batch filenames, The text CHROMOSOME will be replaced by the chromosome number, BATCH by the batchname. |
| | 39 | --mode bttb --in BeagleDirdir --tpl template --out TriTyperDir --size numbatches |
| | 40 | |
| | 41 | ------------------------ |
| | 42 | Ped+Map (Plink files) |
| | 43 | ------------------------ |
| | 44 | |
| | 45 | # Converts Ped and Map files created by ttpmh to Beagle format |
| | 46 | --mode pmbg --in indir --batch-file batches.txt |
| | 47 | |
| | 48 | # Converts TriTyper file to Plink Dosage format. Filetemplate is a template for the batch filenames, The text CHROMOSOME will be replaced by the chromosome number, BATCH by the batchname. |
| | 49 | --mode ttpd --in indir --beagle beagledir --tpl template --batchdesc batchdescriptor --out outdir --fam famfile |
| | 50 | |
| | 51 | # Converts PED and MAP files to TriTyper. |
| | 52 | --mode pmtt --in Ped+MapDir --out TriTyperDir |
| | 53 | |
| | 54 | # Converts TriTyper file to PED and MAP files. The FAM file is optional. --split splits the ped and map files per chromosome |
| | 55 | --mode ttpm --in indir --out outdir [--fam famfile] [--split] |
| | 56 | |
| | 57 | # Converts TriTyper dataset to Ped+Map concordant to reference (hap) dataset. Supply a batchfile if you want to export in batches. Supply a chromosome if you want to export a certain chromosome. |
| | 58 | --mode ttpmh --in TriTyperDir --hap TriTyperReferenceDir --out outdir [--fam famfile] [--batch-file batchfile] [--chr chromosome] [--exclude fileName] |
| | 59 | |
| | 60 | --------------------- |
| | 61 | PostProcessing |
| | 62 | --------------------- |
| | 63 | |
| | 64 | # Correlates genotypes of imputed vs non-imputed datasets. Saves a file called correlationOutput.txt in outdir, containing correlation per chromosome as well as correlation distribution. |
| | 65 | --mode corr --in TriTyperDir --name datasetname --in2 TriTyperDir2 --name2 datasetname2 --out outdir [--snps snplist] |
| | 66 | |
| | 67 | # Correlates genotypes of imputed vs non-imputed datasets. Also take Beagle imputation score (R2) into account. Saves a file called correlationOutput.txt in outdir, containing correlation per chromosome as well as correlation distribution. |
| | 68 | --mode corrb --in TriTyperDir --name datasetname --in2 TriTyperDir2 --name2 datasetname2 --out outdir --beagle beagleDir --tpl template --size numBatches |
| | 69 | |
| | 70 | # Gets all the excluded snps from chrx.excludedsnps.txt with a certain call-rate threshold (0 < threshold < 1.0) |
| | 71 | --mode ecra --in TriTyperDir --threshold threshold |
| | 72 | |
| | 73 | # Generates R2 distribution (beagle quality score) for each batch and chromosome, and tests each batch against chromosome R2 distribution, using WilcoxonMannWhitney test |
| | 74 | --mode r2dist --in BeagleDir --template template --out outdir --size numbatches |
| | 75 | |
| | 76 | # Merge two TriTyper datasets |
| | 77 | --mode merge --in TriTyper1Dir --in2 TryTyper2Dir --out outdir |
| | 78 | |
| | 79 | }}} |
| | 80 | It has been written in java and managed by !NetBeans. |