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GSA-Tumor allows division of the 1881-sample data set into five major subgroups based on clinical annotations available from GEO [13]; 1) all 1881 tumors, 2) ER-positive tumors (n = 1225), 3) ER-negative tumors (n = 395), 4) systemically untreated patients (n = 927), and 5) patients treated with tamoxifen alone (n = 326, GSE6532 [27] and GSE12093 [28]).
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For GSE31519, normalized expression data were downloaded directly from GEO; for GSE25066, raw expression data (.cel) files were obtained, RMA normalized and adjusted for source bias using ComBat [ 30] in R, and the HRneg subset (n = 185) was then selected based on clinical (IHC) annotation.
The PharmGKB database presents specific "Strength of Evidence" levels for variant annotations based on clinical results [ 30].
The TCGA study had more samples but limited clinical annotation, thus restricting the number of samples from which we could conduct our supervised analysis based on clinical parameters.
Diagnosis is mainly based on clinical findings.
Uveitis was diagnosed based on clinical examination.
According to Cordenonsi et al., [ 46] clinical information among the various datasets was standardized redefining the outcome descriptions based on the clinical annotations of each individual study.
Additional file 3: Gene list enrichment analysis and candidate gene prioritization based on functional annotations for clinical categories.
The University of Pittsburgh project team met this requirement using the MVB Query Tool; a web-based application that is based on the caTISSUE Clinical Annotation Engine (CAE) System [ 34].
The NMVB web based query tool is based on the caTISSUE Clinical Annotation Engine (CAE) application.
In our study, GASS was used to achieve the rhesus annotations based on the human annotations.
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