InfiniumPurify

InfiniumPurify estimates tumor purity from Illumina Infinium 450k methylation microarray data to quantify the proportion of cancer cells in mixed tissue samples for cancer genomics analyses.

Key Features:

• Input data: Uses Illumina Infinium 450k methylation microarray data covering over 450,000 CpG sites.
• Methylation–purity correlation: Exploits distribution patterns of methylation values from 450k arrays that are highly correlated with tumor purity.
• Statistical modeling: Applies a statistical model to methylation profiles to estimate quantitative tumor purity values.
• Output: Produces quantitative estimates of tumor purity (proportion of cancer cells) for each sample.
• Validation data: Demonstrated performance on The Cancer Genome Atlas (TCGA) lung cancer dataset.

Scientific Applications:

• Tumor composition assessment: Provides tumor purity estimates to correct for normal cell admixture in mixed clinical tissue samples.
• Mutation detection: Improves accuracy of somatic mutation calling by accounting for tumor purity.
• Copy number analysis: Enhances interpretation of copy number variation results by correcting for cell admixture.
• Gene expression profiling: Aids interpretation of gene expression data by providing purity-adjusted context.
• Translational research: Supports development of targeted therapies and diagnostic accuracy by supplying quantitative tumor purity measures.

Methodology:

Analyzes methylation profiles from Illumina Infinium 450k arrays (over 450,000 CpG sites), leverages the correlation between methylation distribution patterns and tumor purity, and applies a statistical model to infer quantitative tumor purity estimates.