Chao Chen

PSEA prioritizes candidate genes for mendelian disease diagnosis by improving phenotypic similarity evaluation using HPO terms and showing better performance than existing methods.

This study uses time-course single-cell RNA-seq to analyze transcriptional dynamics and heterogeneity of hPSC-derived limbal stem cells, identifying new markers and developmental trajectories.

This study identifies recurrent neoantigens in breast cancer by analyzing somatic mutations and their immunogenic potential through HLA recognition.

This study demonstrates a haplotype-based noninvasive prenatal diagnosis for Hemophilia A using cell-free fetal DNA, confirming results with amniocentesis.

This study validates a noninvasive prenatal diagnosis method for Duchenne Muscular Dystrophy using direct haplotype phasing from maternal DNA sequencing.

This study demonstrates the feasibility and accuracy of haplotype-based noninvasive prenatal diagnosis for Duchenne Muscular Dystrophy using targeted sequencing in a cohort of at-risk pregnancies.

This paper applies targeted sequencing and haplotype analysis to develop a PGD assay for Usher syndrome, resulting in a successful pregnancy with a healthy baby.

This study analyzes molecular profiles and mutation burden in Chinese gastric carcinoma patients, identifying gene alterations and genomic regions linked to tumor burden and prognosis.