Ying Ni

Population-based Characterization of PTEN Hamartoma Tumor Syndrome

The paper identifies 55 individuals with pathogenic PTEN variants in a population-based cohort, revealing higher prevalence and broader clinical features of PHTS than previously recognized.

Breast tumor microbiome regulates anti-tumor immunity and T cell-associated metabolites

This study investigates how the breast tumor microbiome interacts with CD8+ TILs and metabolites, showing that Staphylococcus influences anti-tumor immunity and T cell-associated metabolites.

Metabolic Signatures of Immune Checkpoint Inhibitor Response in Gynecologic Cancers: Insights from Flux Balance Analysis

This study identifies metabolic biomarkers predictive of immune checkpoint inhibitor response in gynecologic cancers using flux balance analysis and machine learning.

XPC loss-of-function triggers melanomagenesis through CDKN2A downregulation

This study identifies an XPC variant that promotes melanomagenesis by downregulating CDKN2A through promoter binding, independent of its nucleotide excision repair function.

Prevalence of Pathogenic Germline Variants in Cancer Susceptibility Genes using the All of Us Dataset

The paper analyzes pathogenic germline variants in cancer susceptibility genes across a large population using the All of Us dataset, finding 5.05% prevalence with significant racial variation.

Giraffe: a tool for comprehensive processing and visualization of multiple long-read sequencing data

Giraffe is a tool for comparative analysis and visualization of long-read sequencing data across multiple samples and platforms, showing Oxford Nanopore duplex reads outperform PacBio HiFi in homopolymer identification and GC evenness.