TUSC7: Functional Impact Scores for Genomic Variants in Lung Cancer

A supplementary file from a 2026 study by Pablo Martin-Lopez provides predicted functional impact scores for genomic variants associated with non-small cell lung cancer. The 91.8 KB CSV file contains variants characterized by hg38 coordinates, reference and alternate alleles, and affected lncRNAs. It includes CADD RawScore and PHRED scores, as well as FATHMM-MKL non-coding scores, with a 'Rank' column for variant prioritization.

Use Cases

• Prioritizing high-impact genomic variants based on the 'Rank' column and functional impact scores.
• Analyzing the relationship between lncRNA variants and cancer pathology using hg38 coordinates and allele information.
• Benchmarking variant effect prediction tools like CADD and FATHMM-MKL for non-coding regions.
• Training models to predict the functional consequences of single nucleotide variants in cancer genomics.

Strengths

• Includes multiple established functional impact prediction metrics (CADD and FATHMM-MKL scores).
• Provides genomic coordinates (hg38) and allele information for precise variant identification.
• File is small (91.8 KB) and in a standard CSV format for easy access and processing.

Limitations

• Missing values are present for indels and multiple nucleotide polymorphisms, as FATHMM-MKL only supports single nucleotide variants.
• Row count is unknown, which may limit suitability assessment for large-scale analyses.
• Column-level documentation is absent; field semantics must be inferred after download.

Provenance

Source

figshare, authored by Pablo Martin-Lopez.

Collection Method

Predicted functional impact results generated as supplementary material for a research publication.

Freshness

Last updated 2026-04-11 03:36:55; freshness should be verified.