Qin He

Systematic common and rare variant association testing in 392,030 whole genomes in All of Us

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

Integrating 730,947 exome sequences with clinical literature improves gene discovery

gnomAD v4 (730,947 exomes) brings LOFTEE-2 loss-of-function annotation (0.90 precision, strict mode), missense-aware constraint, and LLM-mined literature evidence combined with constraint to rank disease genes.

Molecular signatures of hyperexcitability and lithium responsiveness in bipolar disorder patient neurons provide alternative therapeutic strategies.

The paper identifies molecular signatures of neuronal hyperexcitability and lithium responsiveness in bipolar disorder neurons, suggesting new therapeutic strategies targeting Akt and AMPK pathways.

Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach

The paper introduces a multi-polygenic risk score approach to study ASD's genetic architecture, finding that multi-PRSs capture similar risk as traditional PRS-ASD but reveal developmental mirroring effects.

Transcriptomic changes resulting from STK32B overexpression identifies pathways potentially relevant to essential tremor

This study overexpresses STK32B in human cerebellar cells and identifies differentially expressed genes and pathways potentially relevant to essential tremor.

Multi-omics integration of the phenome, transcriptome and genome highlights genes and pathways relevant to essential tremor

The paper integrates multi-omics data to identify genes and pathways associated with essential tremor, finding dysregulated genes and enriched pathways in cerebellar regions.