Table 3_Exploration of candidate genes associated with rare SNVs in pulmonary stenosis usi

A list of 17 candidate genes associated with pulmonary stenosis, prioritized from whole-exome sequencing data of 185 patients and 100 controls. The dataset was created by Yuting Liu and published on figshare in June 2026. It results from applying gene-level burden tests and three machine learning algorithms to identify rare pathogenic single nucleotide variants.

Use Cases

• Prioritizing candidate genes for functional validation based on the list of 17 identified genes.
• Comparing feature selection patterns of LASSO, Random Forest, and XGBoost algorithms for genomic data.
• Integrating gene lists from burden tests and machine learning methods for a more complete genetic analysis.
• Building protein-protein interaction networks using the final candidate genes as seed nodes.

Strengths

• Results from a specific cohort of 185 pulmonary stenosis patients and 100 healthy controls.
• Integrates results from three distinct machine learning algorithms (LASSO, RF, XGBoost) and two statistical tests.
• Includes a final list of 17 prioritized candidate genes, such as HAND2, SETD2, and NOTCH3.

Limitations

• The dataset is very small at 36.3 KB, indicating limited scope.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment for large-scale analyses.

Provenance

Source

figshare

Collection Method

Whole-exome sequencing data analyzed with pathogenicity-filtering strategies, gene-level burden tests, and machine learning algorithms.

Freshness

Last updated 2026-06-04 22:01:44; freshness should be verified.