Zhiqiang Hu

VIPdb version 2 compiles 403 variant impact predictors, summarizing their features and usage trends over 25 years.

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.

StrVCTVRE predicts the pathogenicity of human genome structural variants using a random forest classifier, achieving 90% sensitivity while filtering half of SVs.

The paper shows that a small number of dysregulated adult-born neurons in the hippocampus disrupt brain-wide functional connectivity and spatial memory.

The paper identifies NMD-targeted transcripts in human cells by analyzing RNA-Seq data from NMD-inhibited HeLa cells, revealing broad regulatory potential of alternative splicing coupled with NMD.

The paper characterizes a regulatory network of splicing factors through alternative splicing coupled with NMD, revealing extensive interactions and NMD targeting of splicing factors.