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Phenotype Association
Rank genes/variants using patient phenotypes (HPO) plus upstream evidence (pathogenicity + clinical DB mapping).
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Inputs
Phenotypes (HPO terms)
Provide HPO terms like
HP:0001250
, one per line (or TSV first column).
OmniObject ID
Upload file
Paste data
Phenotype OmniObject ID
Upload phenotype file
Paste HPO terms
One term per line is best.
Candidate variants (normalized table)
Recommended TSV columns:
variant_id
,
gene
,
pathogenicity_score
,
clinical_score
. (Extra columns are allowed.)
OmniObject ID
Upload file
Paste data
Candidate variants OmniObject ID
Optional. If omitted, the plugin can still rank genes by phenotype only.
Upload candidate variants table
Optional.
Paste candidate variants (TSV)
Optional. Paste TSV (tab-delimited) including a header line.
Parameters
Inheritance mode
unknown
AD
AR
XLR
XL
mitochondrial
Max genes
Max variants
Weights (JSON)
{ "phenotype": 0.6, "pathogenicity": 0.3, "clinical": 0.1 }
These must sum to 1.0 (recommended), but v1 can tolerate any floats.
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