@jbrowse/plugin-variants 1.7.11 → 2.0.0

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Files changed (107) hide show
  1. package/dist/ChordVariantDisplay/index.d.ts +2 -1
  2. package/dist/ChordVariantDisplay/index.js +19 -31
  3. package/dist/ChordVariantDisplay/index.js.map +1 -0
  4. package/dist/ChordVariantDisplay/models/ChordVariantDisplay.d.ts +94 -2
  5. package/dist/ChordVariantDisplay/models/ChordVariantDisplay.js +39 -71
  6. package/dist/ChordVariantDisplay/models/ChordVariantDisplay.js.map +1 -0
  7. package/dist/LinearVariantDisplay/configSchema.js +9 -16
  8. package/dist/LinearVariantDisplay/configSchema.js.map +1 -0
  9. package/dist/LinearVariantDisplay/index.js +10 -22
  10. package/dist/LinearVariantDisplay/index.js.map +1 -0
  11. package/dist/LinearVariantDisplay/model.d.ts +17 -12
  12. package/dist/LinearVariantDisplay/model.js +83 -73
  13. package/dist/LinearVariantDisplay/model.js.map +1 -0
  14. package/dist/StructuralVariantChordRenderer/ReactComponent.js +193 -214
  15. package/dist/StructuralVariantChordRenderer/ReactComponent.js.map +1 -0
  16. package/dist/StructuralVariantChordRenderer/index.js +36 -46
  17. package/dist/StructuralVariantChordRenderer/index.js.map +1 -0
  18. package/dist/VariantFeatureWidget/BreakendOptionDialog.d.ts +1 -1
  19. package/dist/VariantFeatureWidget/BreakendOptionDialog.js +95 -119
  20. package/dist/VariantFeatureWidget/BreakendOptionDialog.js.map +1 -0
  21. package/dist/VariantFeatureWidget/VariantFeatureWidget.js +193 -240
  22. package/dist/VariantFeatureWidget/VariantFeatureWidget.js.map +1 -0
  23. package/dist/VariantFeatureWidget/index.d.ts +3 -3
  24. package/dist/VariantFeatureWidget/index.js +14 -22
  25. package/dist/VariantFeatureWidget/index.js.map +1 -0
  26. package/dist/VcfAdapter/VcfAdapter.js +232 -372
  27. package/dist/VcfAdapter/VcfAdapter.js.map +1 -0
  28. package/dist/VcfAdapter/configSchema.js +9 -21
  29. package/dist/VcfAdapter/configSchema.js.map +1 -0
  30. package/dist/VcfAdapter/index.js +8 -14
  31. package/dist/VcfAdapter/index.js.map +1 -0
  32. package/dist/VcfTabixAdapter/VcfFeature.js +203 -246
  33. package/dist/VcfTabixAdapter/VcfFeature.js.map +1 -0
  34. package/dist/VcfTabixAdapter/VcfTabixAdapter.js +237 -374
  35. package/dist/VcfTabixAdapter/VcfTabixAdapter.js.map +1 -0
  36. package/dist/VcfTabixAdapter/configSchema.js +23 -36
  37. package/dist/VcfTabixAdapter/configSchema.js.map +1 -0
  38. package/dist/VcfTabixAdapter/index.js +8 -14
  39. package/dist/VcfTabixAdapter/index.js.map +1 -0
  40. package/dist/index.js +160 -203
  41. package/dist/index.js.map +1 -0
  42. package/esm/ChordVariantDisplay/index.d.ts +4 -0
  43. package/esm/ChordVariantDisplay/index.js +16 -0
  44. package/esm/ChordVariantDisplay/index.js.map +1 -0
  45. package/esm/ChordVariantDisplay/models/ChordVariantDisplay.d.ts +97 -0
  46. package/esm/ChordVariantDisplay/models/ChordVariantDisplay.js +40 -0
  47. package/esm/ChordVariantDisplay/models/ChordVariantDisplay.js.map +1 -0
  48. package/esm/LinearVariantDisplay/configSchema.d.ts +5 -0
  49. package/esm/LinearVariantDisplay/configSchema.js +7 -0
  50. package/esm/LinearVariantDisplay/configSchema.js.map +1 -0
  51. package/esm/LinearVariantDisplay/index.d.ts +2 -0
  52. package/esm/LinearVariantDisplay/index.js +3 -0
  53. package/esm/LinearVariantDisplay/index.js.map +1 -0
  54. package/esm/LinearVariantDisplay/model.d.ts +212 -0
  55. package/esm/LinearVariantDisplay/model.js +34 -0
  56. package/esm/LinearVariantDisplay/model.js.map +1 -0
  57. package/esm/StructuralVariantChordRenderer/ReactComponent.d.ts +24 -0
  58. package/esm/StructuralVariantChordRenderer/ReactComponent.js +133 -0
  59. package/esm/StructuralVariantChordRenderer/ReactComponent.js.map +1 -0
  60. package/esm/StructuralVariantChordRenderer/index.d.ts +3 -0
  61. package/esm/StructuralVariantChordRenderer/index.js +33 -0
  62. package/esm/StructuralVariantChordRenderer/index.js.map +1 -0
  63. package/esm/VariantFeatureWidget/BreakendOptionDialog.d.ts +10 -0
  64. package/esm/VariantFeatureWidget/BreakendOptionDialog.js +58 -0
  65. package/esm/VariantFeatureWidget/BreakendOptionDialog.js.map +1 -0
  66. package/esm/VariantFeatureWidget/VariantFeatureWidget.d.ts +4 -0
  67. package/esm/VariantFeatureWidget/VariantFeatureWidget.js +129 -0
  68. package/esm/VariantFeatureWidget/VariantFeatureWidget.js.map +1 -0
  69. package/esm/VariantFeatureWidget/index.d.ts +37 -0
  70. package/esm/VariantFeatureWidget/index.js +12 -0
  71. package/esm/VariantFeatureWidget/index.js.map +1 -0
  72. package/esm/VcfAdapter/VcfAdapter.d.ts +24 -0
  73. package/esm/VcfAdapter/VcfAdapter.js +99 -0
  74. package/esm/VcfAdapter/VcfAdapter.js.map +1 -0
  75. package/esm/VcfAdapter/configSchema.d.ts +2 -0
  76. package/esm/VcfAdapter/configSchema.js +8 -0
  77. package/esm/VcfAdapter/configSchema.js.map +1 -0
  78. package/esm/VcfAdapter/index.d.ts +1 -0
  79. package/esm/VcfAdapter/index.js +2 -0
  80. package/esm/VcfAdapter/index.js.map +1 -0
  81. package/esm/VcfTabixAdapter/VcfFeature.d.ts +59 -0
  82. package/esm/VcfTabixAdapter/VcfFeature.js +184 -0
  83. package/esm/VcfTabixAdapter/VcfFeature.js.map +1 -0
  84. package/esm/VcfTabixAdapter/VcfTabixAdapter.d.ts +35 -0
  85. package/esm/VcfTabixAdapter/VcfTabixAdapter.js +112 -0
  86. package/esm/VcfTabixAdapter/VcfTabixAdapter.js.map +1 -0
  87. package/esm/VcfTabixAdapter/configSchema.d.ts +2 -0
  88. package/esm/VcfTabixAdapter/configSchema.js +23 -0
  89. package/esm/VcfTabixAdapter/configSchema.js.map +1 -0
  90. package/esm/VcfTabixAdapter/index.d.ts +1 -0
  91. package/esm/VcfTabixAdapter/index.js +2 -0
  92. package/esm/VcfTabixAdapter/index.js.map +1 -0
  93. package/esm/index.d.ts +7 -0
  94. package/esm/index.js +110 -0
  95. package/esm/index.js.map +1 -0
  96. package/package.json +20 -11
  97. package/src/ChordVariantDisplay/index.ts +4 -4
  98. package/src/ChordVariantDisplay/models/ChordVariantDisplay.js +7 -8
  99. package/src/VariantFeatureWidget/BreakendOptionDialog.tsx +8 -9
  100. package/src/VariantFeatureWidget/VariantFeatureWidget.tsx +2 -3
  101. package/src/VariantFeatureWidget/__snapshots__/VariantFeatureWidget.test.js.snap +52 -57
  102. package/dist/LinearVariantDisplay/configSchema.test.js +0 -92
  103. package/dist/VariantFeatureWidget/VariantFeatureWidget.test.js +0 -56
  104. package/dist/VcfAdapter/VcfAdapter.test.js +0 -55
  105. package/dist/VcfTabixAdapter/VcfFeature.test.js +0 -106
  106. package/dist/VcfTabixAdapter/VcfTabixAdapter.test.js +0 -99
  107. package/dist/index.test.js +0 -37
@@ -0,0 +1,129 @@
1
+ /* eslint-disable @typescript-eslint/no-explicit-any */
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+ import React, { useState } from 'react';
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+ import { Divider, Link, Paper, FormControlLabel, Checkbox, TextField, Typography, } from '@mui/material';
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+ import SimpleFeature from '@jbrowse/core/util/simpleFeature';
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+ import { DataGrid } from '@mui/x-data-grid';
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+ import { observer } from 'mobx-react';
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+ import { getSession } from '@jbrowse/core/util';
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+ import { getEnv } from 'mobx-state-tree';
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+ import { FeatureDetails, BaseCard, } from '@jbrowse/core/BaseFeatureWidget/BaseFeatureDetail';
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+ import BreakendOptionDialog from './BreakendOptionDialog';
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+ import { parseBreakend } from '@gmod/vcf';
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+ function VariantSamples(props) {
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+ const [filter, setFilter] = useState({});
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+ const [showFilters, setShowFilters] = useState(false);
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+ const { feature } = props;
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+ const { samples = {} } = feature;
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+ const preFilteredRows = Object.entries(samples);
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+ if (!preFilteredRows.length) {
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+ return null;
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+ }
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+ const infoFields = ['sample', ...Object.keys(preFilteredRows[0][1])].map(field => ({
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+ field,
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+ }));
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+ let error;
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+ let rows = [];
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+ const filters = Object.keys(filter);
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+ // catch some error thrown from regex
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+ // note: maps all values into a string, if this is not done rows are not
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+ // sortable by the data-grid
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+ try {
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+ rows = preFilteredRows
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+ .map((row) => ({
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+ ...Object.fromEntries(Object.entries(row[1]).map(entry => [entry[0], String(entry[1])])),
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+ sample: row[0],
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+ id: row[0],
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+ }))
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+ .filter((row) => {
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+ return filters.length
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+ ? filters.every(key => {
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+ const val = row[key];
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+ const currFilter = filter[key];
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+ return currFilter ? val.match(new RegExp(currFilter, 'i')) : true;
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+ })
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+ : true;
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+ });
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+ }
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+ catch (e) {
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+ error = e;
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+ }
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+ // disableSelectionOnClick helps avoid
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+ // https://github.com/mui-org/material-ui-x/issues/1197
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+ return (React.createElement(BaseCard, { ...props, title: "Samples" },
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+ error ? React.createElement(Typography, { color: "error" }, `${error}`) : null,
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+ React.createElement(FormControlLabel, { control: React.createElement(Checkbox, { checked: showFilters, onChange: () => setShowFilters(f => !f) }), label: "Show sample filters" }),
55
+ showFilters ? (React.createElement(React.Fragment, null,
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+ React.createElement(Typography, null, "These filters can use a plain text search or regex style query, e.g. in the genotype field, entering 1 will query for all genotypes that include the first alternate allele e.g. 0|1 or 1|1, entering [1-9]\\d* will find any non-zero allele e.g. 0|2 or 2/33"),
57
+ infoFields.map(({ field }) => {
58
+ return (React.createElement(TextField, { key: `filter-${field}`, placeholder: `Filter ${field}`, value: filter[field] || '', onChange: event => setFilter({ ...filter, [field]: event.target.value }) }));
59
+ }))) : null,
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+ React.createElement("div", { style: { height: 600, width: '100%', overflow: 'auto' } },
61
+ React.createElement(DataGrid, { rows: rows, columns: infoFields, disableSelectionOnClick: true, rowHeight: 25, disableColumnMenu: true }))));
62
+ }
63
+ function BreakendPanel(props) {
64
+ const { model, locStrings, feature } = props;
65
+ const session = getSession(model);
66
+ const { pluginManager } = getEnv(session);
67
+ const [breakpointDialog, setBreakpointDialog] = useState(false);
68
+ let viewType;
69
+ try {
70
+ viewType = pluginManager.getViewType('BreakpointSplitView');
71
+ }
72
+ catch (e) {
73
+ // ignore
74
+ }
75
+ const simpleFeature = new SimpleFeature(feature);
76
+ return (React.createElement(BaseCard, { ...props, title: "Breakends" },
77
+ React.createElement(Typography, null, "Link to linear view of breakend endpoints"),
78
+ React.createElement("ul", null, locStrings.map(locString => (React.createElement("li", { key: `${JSON.stringify(locString)}` },
79
+ React.createElement(Link, { href: "#", onClick: event => {
80
+ var _a;
81
+ event.preventDefault();
82
+ const { view } = model;
83
+ try {
84
+ if (view) {
85
+ (_a = view.navToLocString) === null || _a === void 0 ? void 0 : _a.call(view, locString);
86
+ }
87
+ else {
88
+ throw new Error('No view associated with this feature detail panel anymore');
89
+ }
90
+ }
91
+ catch (e) {
92
+ console.error(e);
93
+ session.notify(`${e}`);
94
+ }
95
+ } }, `LGV - ${locString}`))))),
96
+ viewType ? (React.createElement("div", null,
97
+ React.createElement(Typography, null, "Launch split views with breakend source and target"),
98
+ React.createElement("ul", null, locStrings.map(locString => (React.createElement("li", { key: `${JSON.stringify(locString)}` },
99
+ React.createElement(Link, { href: "#", onClick: event => {
100
+ event.preventDefault();
101
+ setBreakpointDialog(true);
102
+ } }, `${feature.refName}:${feature.start} // ${locString} (split view)`))))),
103
+ breakpointDialog ? (React.createElement(BreakendOptionDialog, { model: model, feature: simpleFeature, viewType: viewType, handleClose: () => {
104
+ setBreakpointDialog(false);
105
+ } })) : null)) : null));
106
+ }
107
+ function VariantFeatureDetails(props) {
108
+ const { model } = props;
109
+ const { featureData, descriptions } = model;
110
+ const feat = JSON.parse(JSON.stringify(featureData));
111
+ const { samples, ...rest } = feat;
112
+ const basicDescriptions = {
113
+ CHROM: 'chromosome: An identifier from the reference genome',
114
+ POS: 'position: The reference position, with the 1st base having position 1',
115
+ ID: 'identifier: Semi-colon separated list of unique identifiers where available',
116
+ REF: 'reference base(s): Each base must be one of A,C,G,T,N (case insensitive).',
117
+ ALT: 'alternate base(s): Comma-separated list of alternate non-reference alleles',
118
+ QUAL: 'quality: Phred-scaled quality score for the assertion made in ALT',
119
+ FILTER: 'filter status: PASS if this position has passed all filters, otherwise a semicolon-separated list of codes for filters that fail',
120
+ };
121
+ return (React.createElement(Paper, { "data-testid": "variant-side-drawer" },
122
+ React.createElement(FeatureDetails, { feature: rest, descriptions: { ...basicDescriptions, ...descriptions }, ...props }),
123
+ React.createElement(Divider, null),
124
+ feat.type === 'breakend' ? (React.createElement(BreakendPanel, { feature: feat, locStrings: feat.ALT.map((alt) => { var _a; return ((_a = parseBreakend(alt)) === null || _a === void 0 ? void 0 : _a.MatePosition) || ''; }), model: model })) : null,
125
+ feat.type === 'translocation' ? (React.createElement(BreakendPanel, { feature: feat, model: model, locStrings: [`${feat.INFO.CHR2[0]}:${feat.INFO.END}`] })) : null,
126
+ React.createElement(VariantSamples, { feature: feat, ...props })));
127
+ }
128
+ export default observer(VariantFeatureDetails);
129
+ //# sourceMappingURL=VariantFeatureWidget.js.map
@@ -0,0 +1 @@
1
+ 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@@ -0,0 +1,37 @@
1
+ import PluginManager from '@jbrowse/core/PluginManager';
2
+ export declare const configSchema: import("@jbrowse/core/configuration").AnyConfigurationSchemaType;
3
+ export declare function stateModelFactory(pluginManager: PluginManager): import("mobx-state-tree").IModelType<{
4
+ id: import("mobx-state-tree").IOptionalIType<import("mobx-state-tree").ISimpleType<string>, [undefined]>;
5
+ type: import("mobx-state-tree").ISimpleType<"BaseFeatureWidget">;
6
+ featureData: import("mobx-state-tree").IType<any, any, any>;
7
+ formattedFields: import("mobx-state-tree").IType<any, any, any>;
8
+ unformattedFeatureData: import("mobx-state-tree").IType<any, any, any>;
9
+ view: import("mobx-state-tree").IMaybe<import("mobx-state-tree").IReferenceType<import("mobx-state-tree").IAnyType>>;
10
+ track: import("mobx-state-tree").IMaybe<import("mobx-state-tree").IReferenceType<import("mobx-state-tree").IAnyType>>;
11
+ } & {
12
+ type: import("mobx-state-tree").ISimpleType<"VariantFeatureWidget">;
13
+ descriptions: import("mobx-state-tree").IType<any, any, any>;
14
+ }, {
15
+ setFeatureData(featureData: Record<string, unknown>): void;
16
+ clearFeatureData(): void;
17
+ setFormattedData(feat: Record<string, unknown>): void;
18
+ } & {
19
+ afterCreate(): void;
20
+ }, {
21
+ type: "BaseFeatureWidget";
22
+ } & Partial<import("mobx-state-tree/dist/internal").ExtractCFromProps<{
23
+ id: import("mobx-state-tree").IOptionalIType<import("mobx-state-tree").ISimpleType<string>, [undefined]>;
24
+ type: import("mobx-state-tree").ISimpleType<"BaseFeatureWidget">;
25
+ featureData: import("mobx-state-tree").IType<any, any, any>;
26
+ formattedFields: import("mobx-state-tree").IType<any, any, any>;
27
+ unformattedFeatureData: import("mobx-state-tree").IType<any, any, any>;
28
+ view: import("mobx-state-tree").IMaybe<import("mobx-state-tree").IReferenceType<import("mobx-state-tree").IAnyType>>;
29
+ track: import("mobx-state-tree").IMaybe<import("mobx-state-tree").IReferenceType<import("mobx-state-tree").IAnyType>>;
30
+ }>> & import("mobx-state-tree/dist/internal").NonEmptyObject & import("mobx-state-tree")._NotCustomized, {
31
+ id: string;
32
+ type: "BaseFeatureWidget";
33
+ track: import("mobx-state-tree").ReferenceIdentifier | undefined;
34
+ view: import("mobx-state-tree").ReferenceIdentifier | undefined;
35
+ formattedFields: any;
36
+ finalizedFeatureData: any;
37
+ } & import("mobx-state-tree")._NotCustomized>;
@@ -0,0 +1,12 @@
1
+ import { ConfigurationSchema } from '@jbrowse/core/configuration';
2
+ import { types } from 'mobx-state-tree';
3
+ import { stateModelFactory as baseModelFactory } from '@jbrowse/core/BaseFeatureWidget';
4
+ export const configSchema = ConfigurationSchema('VariantFeatureWidget', {});
5
+ export function stateModelFactory(pluginManager) {
6
+ const baseModel = baseModelFactory(pluginManager);
7
+ return types.compose(baseModel, types.model('VariantFeatureWidget', {
8
+ type: types.literal('VariantFeatureWidget'),
9
+ descriptions: types.frozen(),
10
+ }));
11
+ }
12
+ //# sourceMappingURL=index.js.map
@@ -0,0 +1 @@
1
+ {"version":3,"file":"index.js","sourceRoot":"","sources":["../../src/VariantFeatureWidget/index.ts"],"names":[],"mappings":"AAAA,OAAO,EAAE,mBAAmB,EAAE,MAAM,6BAA6B,CAAA;AAEjE,OAAO,EAAE,KAAK,EAAE,MAAM,iBAAiB,CAAA;AACvC,OAAO,EAAE,iBAAiB,IAAI,gBAAgB,EAAE,MAAM,iCAAiC,CAAA;AAEvF,MAAM,CAAC,MAAM,YAAY,GAAG,mBAAmB,CAAC,sBAAsB,EAAE,EAAE,CAAC,CAAA;AAE3E,MAAM,UAAU,iBAAiB,CAAC,aAA4B;IAC5D,MAAM,SAAS,GAAG,gBAAgB,CAAC,aAAa,CAAC,CAAA;IACjD,OAAO,KAAK,CAAC,OAAO,CAClB,SAAS,EACT,KAAK,CAAC,KAAK,CAAC,sBAAsB,EAAE;QAClC,IAAI,EAAE,KAAK,CAAC,OAAO,CAAC,sBAAsB,CAAC;QAC3C,YAAY,EAAE,KAAK,CAAC,MAAM,EAAE;KAC7B,CAAC,CACH,CAAA;AACH,CAAC"}
@@ -0,0 +1,24 @@
1
+ import { BaseFeatureDataAdapter, BaseOptions } from '@jbrowse/core/data_adapters/BaseAdapter';
2
+ import { Region } from '@jbrowse/core/util/types';
3
+ import { Feature } from '@jbrowse/core/util/simpleFeature';
4
+ import IntervalTree from '@flatten-js/interval-tree';
5
+ export default class VcfAdapter extends BaseFeatureDataAdapter {
6
+ static capabilities: string[];
7
+ protected vcfFeatures?: Promise<{
8
+ header: string;
9
+ intervalTree: Record<string, IntervalTree>;
10
+ }>;
11
+ getHeader(): Promise<string>;
12
+ getMetadata(): Promise<any>;
13
+ setupP(): Promise<{
14
+ header: string;
15
+ intervalTree: Record<string, IntervalTree<any>>;
16
+ }>;
17
+ setup(): Promise<{
18
+ header: string;
19
+ intervalTree: Record<string, IntervalTree<any>>;
20
+ }>;
21
+ getRefNames(_?: BaseOptions): Promise<string[]>;
22
+ getFeatures(region: Region, opts?: BaseOptions): import("rxjs").Observable<Feature>;
23
+ freeResources(): void;
24
+ }
@@ -0,0 +1,99 @@
1
+ import { BaseFeatureDataAdapter, } from '@jbrowse/core/data_adapters/BaseAdapter';
2
+ import { openLocation } from '@jbrowse/core/util/io';
3
+ import { ObservableCreate } from '@jbrowse/core/util/rxjs';
4
+ import { readConfObject } from '@jbrowse/core/configuration';
5
+ import IntervalTree from '@flatten-js/interval-tree';
6
+ import { unzip } from '@gmod/bgzf-filehandle';
7
+ import VCF from '@gmod/vcf';
8
+ import VcfFeature from '../VcfTabixAdapter/VcfFeature';
9
+ const readVcf = (f) => {
10
+ const lines = f.split('\n');
11
+ const header = [];
12
+ const rest = [];
13
+ lines.forEach(line => {
14
+ if (line.startsWith('#')) {
15
+ header.push(line);
16
+ }
17
+ else if (line) {
18
+ rest.push(line);
19
+ }
20
+ });
21
+ return { header: header.join('\n'), lines: rest };
22
+ };
23
+ function isGzip(buf) {
24
+ return buf[0] === 31 && buf[1] === 139 && buf[2] === 8;
25
+ }
26
+ export default class VcfAdapter extends BaseFeatureDataAdapter {
27
+ async getHeader() {
28
+ const { header } = await this.setup();
29
+ return header;
30
+ }
31
+ async getMetadata() {
32
+ const { header } = await this.setup();
33
+ const parser = new VCF({ header: header });
34
+ return parser.getMetadata();
35
+ }
36
+ // converts lines into an interval tree
37
+ async setupP() {
38
+ const buffer = await openLocation(readConfObject(this.config, 'vcfLocation'), this.pluginManager).readFile();
39
+ const buf = isGzip(buffer) ? await unzip(buffer) : buffer;
40
+ // 512MB max chrome string length is 512MB
41
+ if (buf.length > 536870888) {
42
+ throw new Error('Data exceeds maximum string length (512MB)');
43
+ }
44
+ const str = new TextDecoder().decode(buf);
45
+ const { header, lines } = readVcf(str);
46
+ const intervalTree = lines
47
+ .map((line, id) => {
48
+ var _a;
49
+ const [refName, startP, , ref, , , , info] = line.split('\t');
50
+ const start = +startP - 1;
51
+ const end = +(((_a = info.match(/END=(\d+)/)) === null || _a === void 0 ? void 0 : _a[1].trim()) || start + ref.length);
52
+ return { line, refName, start, end, id };
53
+ })
54
+ .reduce((acc, obj) => {
55
+ const key = obj.refName;
56
+ if (!acc[key]) {
57
+ acc[key] = new IntervalTree();
58
+ }
59
+ acc[key].insert([obj.start, obj.end], obj);
60
+ return acc;
61
+ }, {});
62
+ return { header, intervalTree };
63
+ }
64
+ async setup() {
65
+ if (!this.vcfFeatures) {
66
+ this.vcfFeatures = this.setupP().catch(e => {
67
+ this.vcfFeatures = undefined;
68
+ throw e;
69
+ });
70
+ }
71
+ return this.vcfFeatures;
72
+ }
73
+ async getRefNames(_ = {}) {
74
+ const { intervalTree } = await this.setup();
75
+ return Object.keys(intervalTree);
76
+ }
77
+ getFeatures(region, opts = {}) {
78
+ return ObservableCreate(async (observer) => {
79
+ var _a;
80
+ try {
81
+ const { start, end, refName } = region;
82
+ const { header, intervalTree } = await this.setup();
83
+ const parser = new VCF({ header: header });
84
+ (_a = intervalTree[refName]) === null || _a === void 0 ? void 0 : _a.search([start, end]).forEach(f => observer.next(new VcfFeature({
85
+ variant: parser.parseLine(f.line),
86
+ parser,
87
+ id: `${this.id}-${f.id}`,
88
+ })));
89
+ observer.complete();
90
+ }
91
+ catch (e) {
92
+ observer.error(e);
93
+ }
94
+ }, opts.signal);
95
+ }
96
+ freeResources() { }
97
+ }
98
+ VcfAdapter.capabilities = ['getFeatures', 'getRefNames'];
99
+ //# sourceMappingURL=VcfAdapter.js.map
@@ -0,0 +1 @@
1
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@@ -0,0 +1,2 @@
1
+ declare const _default: import("@jbrowse/core/configuration").AnyConfigurationSchemaType;
2
+ export default _default;
@@ -0,0 +1,8 @@
1
+ import { ConfigurationSchema } from '@jbrowse/core/configuration';
2
+ export default ConfigurationSchema('VcfAdapter', {
3
+ vcfLocation: {
4
+ type: 'fileLocation',
5
+ defaultValue: { uri: '/path/to/my.vcf', locationType: 'UriLocation' },
6
+ },
7
+ }, { explicitlyTyped: true });
8
+ //# sourceMappingURL=configSchema.js.map
@@ -0,0 +1 @@
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+ {"version":3,"file":"configSchema.js","sourceRoot":"","sources":["../../src/VcfAdapter/configSchema.ts"],"names":[],"mappings":"AAAA,OAAO,EAAE,mBAAmB,EAAE,MAAM,6BAA6B,CAAA;AAEjE,eAAe,mBAAmB,CAChC,YAAY,EACZ;IACE,WAAW,EAAE;QACX,IAAI,EAAE,cAAc;QACpB,YAAY,EAAE,EAAE,GAAG,EAAE,iBAAiB,EAAE,YAAY,EAAE,aAAa,EAAE;KACtE;CACF,EACD,EAAE,eAAe,EAAE,IAAI,EAAE,CAC1B,CAAA"}
@@ -0,0 +1 @@
1
+ export { default as configSchema } from './configSchema';
@@ -0,0 +1,2 @@
1
+ export { default as configSchema } from './configSchema';
2
+ //# sourceMappingURL=index.js.map
@@ -0,0 +1 @@
1
+ {"version":3,"file":"index.js","sourceRoot":"","sources":["../../src/VcfAdapter/index.ts"],"names":[],"mappings":"AAAA,OAAO,EAAE,OAAO,IAAI,YAAY,EAAE,MAAM,gBAAgB,CAAA"}
@@ -0,0 +1,59 @@
1
+ import { Feature } from '@jbrowse/core/util/simpleFeature';
2
+ /**
3
+ * VCF Feature creation with lazy genotype evaluation.
4
+ */
5
+ interface Samples {
6
+ [key: string]: {
7
+ [key: string]: {
8
+ values: string[] | number[] | null;
9
+ };
10
+ };
11
+ }
12
+ interface FeatureData {
13
+ [key: string]: unknown;
14
+ refName: string;
15
+ start: number;
16
+ end: number;
17
+ description?: string;
18
+ type?: string;
19
+ name?: string;
20
+ aliases?: string[];
21
+ samples?: Samples;
22
+ }
23
+ export default class VCFFeature implements Feature {
24
+ private variant;
25
+ private parser;
26
+ private data;
27
+ private _id;
28
+ constructor(args: {
29
+ variant: any;
30
+ parser: any;
31
+ id: string;
32
+ });
33
+ get(field: string): any;
34
+ set(): void;
35
+ parent(): undefined;
36
+ children(): undefined;
37
+ tags(): string[];
38
+ id(): string;
39
+ dataFromVariant(variant: {
40
+ REF: string;
41
+ POS: number;
42
+ ALT: string[];
43
+ CHROM: string;
44
+ INFO: any;
45
+ ID: string[];
46
+ }): FeatureData;
47
+ /**
48
+ * Get a sequence ontology (SO) term that describes the variant type
49
+ */
50
+ _getSOTermAndDescription(ref: string, alt: string[]): [string, string] | [undefined, undefined];
51
+ static _altTypeToSO: {
52
+ [key: string]: string | undefined;
53
+ };
54
+ _getSOAndDescFromAltDefs(ref: string, alt: string): [string, string] | [undefined, undefined];
55
+ _getSOAndDescByExamination(ref: string, alt: string): [string, string];
56
+ _makeDescriptionString(soTerm: string, ref: string, alt: string): string;
57
+ toJSON(): any;
58
+ }
59
+ export {};
@@ -0,0 +1,184 @@
1
+ import { parseBreakend } from '@gmod/vcf';
2
+ export default class VCFFeature {
3
+ // eslint-disable-next-line @typescript-eslint/no-explicit-any
4
+ constructor(args) {
5
+ this.variant = args.variant;
6
+ this.parser = args.parser;
7
+ this.data = this.dataFromVariant(this.variant);
8
+ this._id = args.id;
9
+ }
10
+ // eslint-disable-next-line @typescript-eslint/no-explicit-any
11
+ get(field) {
12
+ return field === 'samples'
13
+ ? this.variant.SAMPLES
14
+ : this.data[field] || this.variant[field];
15
+ }
16
+ set() { }
17
+ parent() {
18
+ return undefined;
19
+ }
20
+ children() {
21
+ return undefined;
22
+ }
23
+ tags() {
24
+ const t = [
25
+ ...Object.keys(this.data),
26
+ ...Object.keys(this.variant),
27
+ 'samples',
28
+ ];
29
+ return t;
30
+ }
31
+ id() {
32
+ return this._id;
33
+ }
34
+ dataFromVariant(variant) {
35
+ const { REF, ALT, POS, CHROM, INFO, ID } = variant;
36
+ const start = POS - 1;
37
+ const [SO_term, description] = this._getSOTermAndDescription(REF, ALT);
38
+ const isTRA = ALT === null || ALT === void 0 ? void 0 : ALT.some(f => f === '<TRA>');
39
+ const isSymbolic = ALT === null || ALT === void 0 ? void 0 : ALT.some(f => f.indexOf('<') !== -1);
40
+ return {
41
+ refName: CHROM,
42
+ start,
43
+ end: isSymbolic && INFO.END && !isTRA ? +INFO.END[0] : start + REF.length,
44
+ description,
45
+ type: SO_term,
46
+ name: ID === null || ID === void 0 ? void 0 : ID.join(','),
47
+ aliases: ID && ID.length > 1 ? variant.ID.slice(1) : undefined,
48
+ };
49
+ }
50
+ /**
51
+ * Get a sequence ontology (SO) term that describes the variant type
52
+ */
53
+ _getSOTermAndDescription(ref, alt) {
54
+ // it's just a remark if there are no alternate alleles
55
+ if (!alt || alt === []) {
56
+ return ['remark', 'no alternative alleles'];
57
+ }
58
+ const soTerms = new Set();
59
+ let descriptions = new Set();
60
+ alt.forEach(a => {
61
+ let [soTerm, description] = this._getSOAndDescFromAltDefs(ref, a);
62
+ if (!soTerm) {
63
+ ;
64
+ [soTerm, description] = this._getSOAndDescByExamination(ref, a);
65
+ }
66
+ if (soTerm && description) {
67
+ soTerms.add(soTerm);
68
+ descriptions.add(description);
69
+ }
70
+ });
71
+ // Combine descriptions like ["SNV G -> A", "SNV G -> T"] to ["SNV G -> A,T"]
72
+ if (descriptions.size > 1) {
73
+ const prefixes = new Set([...descriptions].map(desc => {
74
+ const prefix = desc.split('->');
75
+ return prefix[1] ? prefix[0] : desc;
76
+ }));
77
+ const new_descs = [...prefixes].map(prefix => {
78
+ const suffixes = [...descriptions]
79
+ .map(desc => {
80
+ const pref = desc.split('-> ');
81
+ return pref[1] && pref[0] === prefix ? pref[1] : '';
82
+ })
83
+ .filter(f => !!f);
84
+ return suffixes.length
85
+ ? prefix + '-> ' + suffixes.join(',')
86
+ : [...descriptions].join(',');
87
+ });
88
+ descriptions = new Set(new_descs);
89
+ }
90
+ if (soTerms.size) {
91
+ return [[...soTerms].join(','), [...descriptions].join(',')];
92
+ }
93
+ return [undefined, undefined];
94
+ }
95
+ _getSOAndDescFromAltDefs(ref, alt) {
96
+ if (typeof alt === 'string' && !alt.startsWith('<')) {
97
+ return [undefined, undefined];
98
+ }
99
+ // look for a definition with an SO type for this
100
+ let soTerm = VCFFeature._altTypeToSO[alt];
101
+ // if no SO term but ALT is in metadata, assume sequence_variant
102
+ if (!soTerm && this.parser.getMetadata('ALT', alt)) {
103
+ soTerm = 'sequence_variant';
104
+ }
105
+ if (soTerm) {
106
+ return [soTerm, alt];
107
+ }
108
+ // try to look for a definition for a parent term if we can
109
+ const modAlt = alt.split(':');
110
+ if (modAlt.length > 1) {
111
+ return this._getSOAndDescFromAltDefs(ref, `<${modAlt.slice(0, modAlt.length - 1).join(':')}>`);
112
+ }
113
+ // no parent
114
+ return [undefined, undefined];
115
+ }
116
+ // note: term SNV is used instead of SNP because SO definition of SNP says
117
+ // abundance must be at least 1% in population, and can't be sure we meet
118
+ // that
119
+ _getSOAndDescByExamination(ref, alt) {
120
+ const bnd = parseBreakend(alt);
121
+ if (bnd) {
122
+ return ['breakend', alt];
123
+ }
124
+ else if (ref.length === 1 && alt.length === 1) {
125
+ return ['SNV', this._makeDescriptionString('SNV', ref, alt)];
126
+ }
127
+ else if (alt === '<INS>') {
128
+ return ['insertion', alt];
129
+ }
130
+ else if (alt === '<DEL>') {
131
+ return ['deletion', alt];
132
+ }
133
+ else if (alt === '<INV>') {
134
+ return ['deletion', alt];
135
+ }
136
+ else if (alt === '<TRA>') {
137
+ return ['translocation', alt];
138
+ }
139
+ else if (alt.includes('<')) {
140
+ return ['sv', alt];
141
+ }
142
+ else if (ref.length === alt.length) {
143
+ if (ref.split('').reverse().join('') === alt) {
144
+ return ['inversion', this._makeDescriptionString('inversion', ref, alt)];
145
+ }
146
+ return [
147
+ 'substitution',
148
+ this._makeDescriptionString('substitution', ref, alt),
149
+ ];
150
+ }
151
+ else if (ref.length <= alt.length) {
152
+ return ['insertion', this._makeDescriptionString('insertion', ref, alt)];
153
+ }
154
+ else if (ref.length > alt.length) {
155
+ return ['deletion', this._makeDescriptionString('deletion', ref, alt)];
156
+ }
157
+ return ['indel', this._makeDescriptionString('indel', ref, alt)];
158
+ }
159
+ _makeDescriptionString(soTerm, ref, alt) {
160
+ return `${soTerm} ${ref} -> ${alt}`;
161
+ }
162
+ // eslint-disable-next-line @typescript-eslint/no-explicit-any
163
+ toJSON() {
164
+ return {
165
+ uniqueId: this._id,
166
+ ...this.variant,
167
+ ...this.data,
168
+ samples: this.variant.SAMPLES,
169
+ };
170
+ }
171
+ }
172
+ VCFFeature._altTypeToSO = {
173
+ DEL: 'deletion',
174
+ INS: 'insertion',
175
+ DUP: 'duplication',
176
+ INV: 'inversion',
177
+ INVDUP: 'inverted duplication',
178
+ CNV: 'copy_number_variation',
179
+ TRA: 'translocation',
180
+ 'DUP:TANDEM': 'tandem_duplication',
181
+ NON_REF: 'sequence_variant',
182
+ '*': 'sequence_variant',
183
+ };
184
+ //# sourceMappingURL=VcfFeature.js.map
@@ -0,0 +1 @@
1
+ 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