Yu Hu

The paper expands the phenotypic spectrum of NAA10 and NAA15-related neurodevelopmental syndromes by analyzing clinical data from 106 NAA10 and 66 NAA15 variant carriers, revealing variable severity and multi-system involvement.

LIQA quantifies isoform expression and detects differential alternative splicing in long-read RNA-seq data, outperforming existing methods in low-coverage and biased read scenarios.

SCATS detects differential alternative splicing in scRNA-seq data with or without UMIs, showing higher sensitivity than existing methods and validated by qRT-PCR.

This study evaluates the feasibility of using error-prone long-read sequencing for microbiome characterization, showing high accuracy in assembly and abundance estimation.

The paper introduces TASC, a statistical framework to account for technical noise in scRNA-seq by modeling dropout rates and amplification bias, improving differential expression analysis.