Jianlei Gu

PERADIGM: Phenotype Embedding Similarity-based Rare Disease Gene Mapping

PERADIGM identifies rare disease-associated genes by integrating phenotype embeddings and patient similarity, outperforming traditional methods in detecting candidate genes for ADPKD, Marfan syndrome, and NF1.

Glis3 is a modifier of cyst progression in autosomal dominant polycystic kidney disease

This study investigates Glis3's role in ADPKD, finding that its dual inactivation with Pkd1 worsens kidney disease, affecting metabolism and circadian function.

Anks3 mediates cilia dependent polycystin signaling and is essential for adult kidney homeostasis

This study identifies Anks3 as a key regulator of cilia-dependent polycystin signaling and shows its essential role in kidney homeostasis.

AURKA inhibition amplifies DNA replication stress to foster WEE1 kinase dependency and synergistic antitumor effects with WEE1 inhibition in cancers

This study shows that AURKA inhibition increases DNA replication stress in TP53-mutated cancers, creating a dependency on WEE1 that can be exploited with combined AURKA and WEE1 inhibition to enhance antitumor effects.

BMAP: a comprehensive and reproducible biomedical data analysis platform

BMAP provides a platform for managing and analyzing biomedical data, improving reproducibility and efficiency in research workflows.

Comprehensive Analysis of Ubiquitously Expressed Genes in Human, From a Data-Driven Perspective

The paper identifies ubiquitously expressed genes (UEGs) in humans using a data-driven approach and provides their global expression patterns as a resource for further study.

A statistical framework for cross-tissue transcriptome-wide association analysis

The paper introduces a statistical framework for cross-tissue transcriptome-wide association analysis, improving gene-trait association detection and identifying novel genes related to late-onset Alzheimer's disease.