
This repository contains the aberrant gene expression prediction benchmark data as well as the necessary expected gene expression across tissues and tissue-specific isoform contribution scores for AbExp prediction. The aberrant gene expression prediction benchmark data (aberrant_expression_prediction_benchmark.parquet) contains the following columns: individual: GTEx individual gene: Ensembl gene identifier tissue: GTEx tissue tissue_type: GTEx tissue type mu: OUTRIDER-estimated expected gene expression theta: OUTRIDER-estimated gene dispersion counts: Raw gene expression count normalized_counts: OUTRIDER-normalized gene expression count l2fc: log2 fold change between observed and expected gene expression count zscore: z-score of gene expression, obtained by quantile-mapping the OUTRIDER-estimated distribution to the standard normal distribution nominal_pvalue: OUTRIDER-estimated p-value of being an expression outlier FDR: FDR-adjusted p-value of being an expression outlier is_in_benchmark: Whether this observation is part of the aberrant gene expression prediction benchmark is_underexpressed_outlier: Whether this observation is an underexpression outlier at FDR < 20%. This is the benchmark prediction label. The isoform proportions table (gtex_v8_isoform_proportions.tsv) contains the following columns: gene: Ensembl gene identifier tissue_type: GTEx tissue type tissue: GTEx tissue transcript: Ensembl transcript identifier mean_transcript_proportions: mean transcript proportions across individuals in GTEx v8 median_transcript_proportions: median transcript proportions across individuals in GTEx v8 sd_transcript_proportions: standard deviation of transcript proportions across individuals in GTEx v8 The expected gene expression table (gtex_v8_expected_expression.tsv) contains the following columns: gene: Ensembl gene identifier tissue_type: GTEx tissue type tissue: GTEx tissue gene_is_expressed: Whether the gene is expressed in the tissue median_expression: median OUTRIDER-estimated expected gene expression (mu) across individuals expression_dispersion: OUTRIDER-estimated gene dispersion (theta)
GTEx
GTEx
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