Siwei Chen

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants

ALLSPICE identifies heterogeneous rare variant effects across traits in gene-trait associations using summary statistics from the UK Biobank.

The BAF complex works with FOS to regulate human neuronal activity-dependent ASD-associated gene programs

This study identifies BAF complex interaction with FOS in regulating ASD-associated gene programs through enhancer activation and shows how genetic variants disrupt this process.

The liver clock tunes transcriptional rhythms in skeletal muscle to regulate mitochondrial function

This study shows the liver clock regulates transcriptional rhythms in skeletal muscle, affecting mitochondrial function through endocrine communication.

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

Inferring compound heterozygosity from large-scale exome sequencing data

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology

The paper identifies rare genetic variants associated with different epilepsy types, finding the most enrichment in non-acquired focal epilepsy.