Peter Hansen

The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.

The paper introduces uPheno, a framework for cross-species phenomics integration by harmonizing phenotype data across species and ontologies.

The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.

The paper introduces a degree-aware edge sampling method to reduce performance inflation in biomedical graph representation learning caused by imbalanced edge degree distributions.

The paper introduces isopret, an algorithm for predicting isoform-specific functions using RNA-seq data, and shows that expression and splicing regulate distinct biological functions.

The paper uses word embeddings from PubMed to predict which protein kinases are relevant for treating specific cancers using machine learning.

The paper identifies sex-biased differential alternative splicing across multiple human tissues and links it to gene function and estrogen response.

This paper introduces HBA-DEALS, a method that simultaneously identifies differential expression and splicing, showing genes can have differential expression, splicing, both, or neither.