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Merge pull request #4426 from broadinstitute/mito-local-constraint
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Mito local constraint
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hanars authored Oct 15, 2024
2 parents afeb650 + 345d4d1 commit 01ff790
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Showing 19 changed files with 6 additions and 1 deletion.
Binary file modified hail_search/fixtures/GRCh38/MITO/annotations.ht/.README.txt.crc
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2 changes: 1 addition & 1 deletion hail_search/fixtures/GRCh38/MITO/annotations.ht/README.txt
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@@ -1,3 +1,3 @@
This folder comprises a Hail (www.hail.is) native Table or MatrixTable.
Written with version 0.2.128-eead8100a1c1
Created at 2024/02/26 14:35:40
Created at 2024/10/14 16:14:00
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1 change: 1 addition & 0 deletions hail_search/queries/mito.py
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Expand Up @@ -59,6 +59,7 @@ class MitoHailTableQuery(BaseHailTableQuery):
'mitotip': PredictionPath('mitotip', 'trna_prediction'),
'mut_taster': PredictionPath('dbnsfp_mito', 'MutationTaster_pred'),
'sift': PredictionPath('dbnsfp_mito', 'SIFT_score'),
'mlc': PredictionPath('local_constraint_mito', 'score'),
}

PATHOGENICITY_FILTERS = {
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3 changes: 3 additions & 0 deletions hail_search/test_utils.py
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Expand Up @@ -849,6 +849,7 @@
'mitotip': 'likely_pathogenic',
'mut_taster': None,
'sift': None,
'mlc': 3.38874,
},
'commonLowHeteroplasmy': False,
'highConstraintRegion': True,
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'mitotip': None,
'mut_taster': 'N',
'sift': 0,
'mlc': None,
},
'commonLowHeteroplasmy': False,
'highConstraintRegion': True,
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'mitotip': None,
'mut_taster': None,
'sift': None,
'mlc': 0.7514,
},
'commonLowHeteroplasmy': True,
'highConstraintRegion': False,
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1 change: 1 addition & 0 deletions ui/shared/utils/constants.js
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Expand Up @@ -1515,6 +1515,7 @@ export const ORDERED_PREDICTOR_FIELDS = [
{ field: 'haplogroup_defining', indicatorMap: { Y: { color: 'green', value: '' } } },
{ field: 'mitotip', indicatorMap: MITOTIP_MAP, fieldTitle: 'MitoTIP' },
{ field: 'hmtvar', thresholds: [undefined, undefined, 0.35, 0.35, undefined], fieldTitle: 'HmtVar' },
{ field: 'mlc', thresholds: [undefined, 0.5, 0.5, 0.75, undefined], fieldTitle: 'MLC' },
]

export const coloredIcon = color => React.createElement(color.startsWith('#') ? ColoredIcon : Icon, { name: 'circle', size: 'small', color })
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