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| 1 | +id: imputationserver-pgs |
| 2 | +name: Polygenic Score Calculation |
| 3 | +description: "You can upload genotyped data and the application imputes your genotypes, performs ancestry estimation and finally calculates Polygenic Risk Scores.<br><br>No dataset at hand? No problem, download our example dataset: <a href=\"https://imputationserver.sph.umich.edu/resources/50-samples.zip\" class=\"btn btn-sm btn-secondary\" style=\"color:#ffffff !important\"><i class=\"fa fa-file\"></i> 50-samples.zip</a><br><br>" |
| 4 | +version: 2.0.0-dev |
| 5 | +website: https://imputationserver.readthedocs.io |
| 6 | +category: |
| 7 | + |
| 8 | +workflow: |
| 9 | + steps: |
| 10 | + - name: Quality Control and Imputation |
| 11 | + type: nextflow |
| 12 | + script: main.nf |
| 13 | + # params without UI |
| 14 | + params: |
| 15 | + project: "${CLOUDGENE_JOB_NAME}" |
| 16 | + pgs: |
| 17 | + enabled: true |
| 18 | + user: |
| 19 | + email: "${CLOUDGENE_USER_EMAIL}" |
| 20 | + name: "${CLOUDGENE_USER_NAME}" |
| 21 | + service: |
| 22 | + name: "${CLOUDGENE_SERVICE_NAME}" |
| 23 | + email: "${CLOUDGENE_CONTACT_EMAIL}" |
| 24 | + url: "${CLOUDGENE_SERVICE_URL}" |
| 25 | + processes: |
| 26 | + - process: "IMPUTATIONSERVER:INPUT_VALIDATION:INPUT_VALIDATION_VCF" |
| 27 | + label: "Input Validation" |
| 28 | + - process: "IMPUTATIONSERVER:QUALITY_CONTROL:QUALITY_CONTROL_VCF" |
| 29 | + label: "Quality Control" |
| 30 | + - process: "IMPUTATIONSERVER:PHASING:EAGLE" |
| 31 | + view: progressbar |
| 32 | + label: "Phasing" |
| 33 | + - process: "IMPUTATIONSERVER:IMPUTATION:MINIMAC4" |
| 34 | + view: progressbar |
| 35 | + label: "Imputation" |
| 36 | + - process: "IMPUTATIONSERVER:PGS_CALCULATION:CALCULATE_CHUNKS" |
| 37 | + view: progressbar |
| 38 | + label: "Ploygenic Scores" |
| 39 | + - process: "IMPUTATIONSERVER:ENCRYPTION:COMPRESSION_ENCRYPTION_VCF" |
| 40 | + label: "Compression and Encryption" |
| 41 | + |
| 42 | + inputs: |
| 43 | + - id: refpanel |
| 44 | + description: Reference Panel (<a href="https://imputationserver.sph.umich.edu/start.html#!pages/refpanels" target="_blank">Details</a>) |
| 45 | + type: app_list |
| 46 | + category: RefPanel |
| 47 | + |
| 48 | + - id: files |
| 49 | + description: Input Files (<a href="http://www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call-format-version-41" target="_blank">VCF</a>) |
| 50 | + type: local-folder |
| 51 | + pattern: "*.vcf.gz" |
| 52 | + |
| 53 | + - id: build |
| 54 | + description: Array Build |
| 55 | + type: list |
| 56 | + value: hg19 |
| 57 | + values: |
| 58 | + hg19: GRCh37/hg19 |
| 59 | + hg38: GRCh38/hg38 |
| 60 | + details: Please note that the final SNP coordinates always match the reference build. |
| 61 | + |
| 62 | + - id: r2Filter |
| 63 | + description: rsq Filter |
| 64 | + type: list |
| 65 | + value: 0 |
| 66 | + values: |
| 67 | + 0: off |
| 68 | + 0.001: 0.001 |
| 69 | + 0.1: 0.1 |
| 70 | + 0.2: 0.2 |
| 71 | + 0.3: 0.3 |
| 72 | + |
| 73 | + - id: phasing |
| 74 | + description: Phasing |
| 75 | + type: list |
| 76 | + value: eagle |
| 77 | + values: |
| 78 | + eagle: Eagle v2.4 (phased output) |
| 79 | + no_phasing: No phasing |
| 80 | + |
| 81 | + - id: population |
| 82 | + description: Population |
| 83 | + type: list |
| 84 | + values: |
| 85 | + bind: refpanel |
| 86 | + property: populations |
| 87 | + category: RefPanel |
| 88 | + |
| 89 | + - id: mode |
| 90 | + description: Mode |
| 91 | + type: list |
| 92 | + value: imputation |
| 93 | + values: |
| 94 | + qconly: Quality Control Only |
| 95 | + imputation: Quality Control & Imputation |
| 96 | + |
| 97 | + - id: aesEncryption |
| 98 | + description: AES 256 encryption |
| 99 | + details: Imputation Server encrypts all zip files by default. Please note that AES encryption does not work with standard unzip programs. Use 7z instead. |
| 100 | + type: checkbox |
| 101 | + value: no |
| 102 | + values: |
| 103 | + true: yes |
| 104 | + false: no |
| 105 | + visible: true |
| 106 | + |
| 107 | + - id: meta |
| 108 | + description: Generate Meta-imputation file |
| 109 | + type: checkbox |
| 110 | + value: no |
| 111 | + values: |
| 112 | + true: yes |
| 113 | + false: no |
| 114 | + visible: true |
| 115 | + |
| 116 | + - id: myseparator0 |
| 117 | + type: separator |
| 118 | + |
| 119 | + - id: info2 |
| 120 | + type: info |
| 121 | + description: <b>PGS Calculation</b><br><small class="text-muted">Please select a collection of polygenic scores to enable on the fly PGS calculation.</small> |
| 122 | + |
| 123 | + - id: pgscatalog |
| 124 | + description: Scores |
| 125 | + type: app_list |
| 126 | + required: true |
| 127 | + category: PGSPanel |
| 128 | + |
| 129 | + - id: pgs_subset |
| 130 | + description: Trait Category |
| 131 | + type: list |
| 132 | + values: |
| 133 | + bind: pgscatalog |
| 134 | + property: categories |
| 135 | + category: PGSPanel |
| 136 | + |
| 137 | + - id: myseparator |
| 138 | + type: separator |
| 139 | + |
| 140 | + - id: check1 |
| 141 | + description: I will not attempt to re-identify or contact research participants. |
| 142 | + type: terms_checkbox |
| 143 | + |
| 144 | + - id: check2 |
| 145 | + description: I will report any inadvertent data release, security breach or other data management incident of which I become aware. |
| 146 | + type: terms_checkbox |
| 147 | + |
| 148 | + outputs: |
| 149 | + - id: output |
| 150 | + description: Output |
| 151 | + type: local-folder |
| 152 | + download: true |
| 153 | + temp: false |
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