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2 | 2 |
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3 | 3 | The PacBio Human WGS Variant Pipeline is an analysis workflow for PacBio HiFi human whole genome sequencing data, with joint calling for related samples. |
4 | 4 |
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5 | | -Templates and instructions for how to submit the `family` input on the DNAnexus platform are provided in the [Example JSON Documents](#example-json-documents) and [Submitting to DNAnexus](#submitting-to-dnanexus) sections below. |
| 5 | +Templates and instructions for how to submit the `Family struct` input on the DNAnexus platform are provided in the [Example JSON Documents](#example-json-documents) and [Submitting to DNAnexus](#submitting-to-dnanexus) sections below. |
6 | 6 |
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7 | 7 | ## Inputs |
8 | 8 |
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9 | 9 | The workflow has the following inputs: |
10 | 10 |
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11 | 11 | | Type | Name | Description | Notes | |
12 | 12 | | ---- | ---- | ----------- | ----- | |
13 | | -| Struct | family | Family struct describing samples, relationships, and unaligned BAM paths. | See below for more information | |
14 | | -| String | phenotypes | [Human Phenotype Ontology](https://hpo.jax.org/) (HPO) phenotypes associated with the affected proband. | For example, if the proband has seizures and hypotonia, then the `phenotypes` string might be `"HP:0001250,HP:0001252"`. | |
15 | | -| File | trgt_tandem_repeat_bed | BED file containing repeat coordinates and information about the repeat structure | The default file should be sufficient for most use cases | |
16 | | -| Integer | glnexus_mem_gb | Override GLnexus memory request (GB) | Optional. Should only be specified if GLnexus step fails. | |
17 | | -| Integer | pbsv_call_mem_gb | Override PBSV call memory request (GB) | Optional. Should only be specified if PBSV step fails. | |
18 | | -| Boolean | run_tertiary | Whether to run tertiary analysis for small variants and structural variants | Default: `true` | |
| 13 | +| File chooser | Family struct | One or more files corresponding to the sample data described in your Family struct JSON below. | |
| 14 | +| File chooser | TRGT Tandem Repeat Definitions | BED file containing repeat coordinates and information about the repeat structure. | The default file should be sufficient for most use cases. | |
| 15 | +| Struct | Family struct | Family struct JSON describing samples, relationships, and unaligned BAM paths. | See below for more information. | |
| 16 | +| Integer | GLnexus memory override | Override GLnexus memory request (GB) | Optional. Should only be specified if GLnexus step fails. | |
| 17 | +| Integer | PBSV memory override | Override PBSV call memory request (GB) | Optional. Should only be specified if PBSV step fails. | |
| 18 | +| String | Phenotypes | [Human Phenotype Ontology](https://hpo.jax.org/) Comma-delimited string of (HPO) phenotypes associated with the affected proband. | For example, if the proband has seizures and hypotonia, then the `phenotypes` string would be `HP:0001250,HP:0001252`. | |
| 19 | +| Boolean | Run tertiary analysis | Whether to run tertiary analysis for small variants and structural variants | Default: `true` | |
19 | 20 |
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20 | 21 | ## Family Struct Syntax |
21 | 22 |
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22 | | -The `Family` input for the HiFi-human-WGS-WDL workflow is a JSON document that contains the samples for the family. The same struct is used for a single sample or trio, with the single sample case having only one entry in the `samples` array. |
| 23 | +The `Family` input for the HiFi-human-WGS-WDL workflow is a JSON document that contains the samples for the family. The same struct syntax is used for a single sample or trio, with the single sample case having only one entry in the `samples` array. |
23 | 24 |
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24 | 25 | ### Structs and Field Descriptions |
25 | 26 |
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@@ -85,52 +86,50 @@ In this example, the optional `sex` field is not specified, so tools will defaul |
85 | 86 |
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86 | 87 | ```json |
87 | 88 | { |
88 | | - "family": { |
89 | | - "family_id": "AJTRIO", |
90 | | - "samples": [ |
91 | | - { |
92 | | - "sample_id": "HG002", |
93 | | - "hifi_reads": [ |
94 | | - { |
95 | | - "$dnanexus_link": { |
96 | | - "id": "file-xxxx", |
97 | | - "project": "project-xxxx" |
98 | | - } |
| 89 | + "family_id": "AJTRIO", |
| 90 | + "samples": [ |
| 91 | + { |
| 92 | + "sample_id": "HG002", |
| 93 | + "hifi_reads": [ |
| 94 | + { |
| 95 | + "$dnanexus_link": { |
| 96 | + "id": "file-xxxx", |
| 97 | + "project": "project-xxxx" |
99 | 98 | } |
100 | | - ], |
101 | | - "affected": true, |
102 | | - "sex": "MALE", |
103 | | - "father_id": "HG003", |
104 | | - "mother_id": "HG004" |
105 | | - }, |
106 | | - { |
107 | | - "sample_id": "HG003", |
108 | | - "hifi_reads": [ |
109 | | - { |
110 | | - "$dnanexus_link": { |
111 | | - "id": "file-xxxx", |
112 | | - "project": "project-xxxx" |
113 | | - } |
| 99 | + } |
| 100 | + ], |
| 101 | + "affected": true, |
| 102 | + "sex": "MALE", |
| 103 | + "father_id": "HG003", |
| 104 | + "mother_id": "HG004" |
| 105 | + }, |
| 106 | + { |
| 107 | + "sample_id": "HG003", |
| 108 | + "hifi_reads": [ |
| 109 | + { |
| 110 | + "$dnanexus_link": { |
| 111 | + "id": "file-xxxx", |
| 112 | + "project": "project-xxxx" |
114 | 113 | } |
115 | | - ], |
116 | | - "affected": false, |
117 | | - "sex": "MALE" |
118 | | - }, |
119 | | - { |
120 | | - "sample_id": "HG004", |
121 | | - "hifi_reads": [ |
122 | | - { |
123 | | - "$dnanexus_link": { |
124 | | - "id": "file-xxxx", |
125 | | - "project": "project-xxxx" |
126 | | - } |
| 114 | + } |
| 115 | + ], |
| 116 | + "affected": false, |
| 117 | + "sex": "MALE" |
| 118 | + }, |
| 119 | + { |
| 120 | + "sample_id": "HG004", |
| 121 | + "hifi_reads": [ |
| 122 | + { |
| 123 | + "$dnanexus_link": { |
| 124 | + "id": "file-xxxx", |
| 125 | + "project": "project-xxxx" |
127 | 126 | } |
128 | | - ], |
129 | | - "affected": false, |
130 | | - "sex": "FEMALE" |
131 | | - } |
132 | | - ] |
133 | | - } |
| 127 | + } |
| 128 | + ], |
| 129 | + "affected": false, |
| 130 | + "sex": "FEMALE" |
| 131 | + } |
| 132 | + ] |
134 | 133 | } |
135 | 134 | ``` |
136 | 135 |
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