Hung‐Chun Yu

The paper describes a comprehensive genomic dataset from a tumor-normal pair with broad consent, generated using multiple sequencing technologies for benchmarking somatic variant detection.

This study identifies over 400,000 CNVs in 3400 Bantu African children, highlighting common CNVs overlapping disease-associated genes and providing a large dataset for African ancestry CNV research.

The paper identifies a GABRA1 mutation in a patient with seizures, creates a zebrafish model to study its effects, and shows hypomotility and subunit expression defects.

This study evaluates a precision health platform integrating whole genome sequencing and noninvasive clinical assessments in 1190 healthy participants, identifying significant genetic and phenotypic findings linked to disease risk.

The paper integrates multimodal health data to identify novel biomarker signatures for health and disease, showing better predictive power for diabetes and hypertension than traditional biomarkers.

This paper screens adults using whole genome sequencing and imaging to detect age-related chronic disease risks, finding unrecognized diseases in 8% of participants and genomic correlations in 25%.

The paper analyzes genetic diversity across 11,257 human genomes to identify context-dependent conserved regions and their association with disease variants.