Scott Joseph Hebbring

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.

The paper extracts family relationships from obituaries and matches them to EHR data, identifying pedigrees and demonstrating their utility in genetic research.

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

This study identifies a novel tumor-predisposing syndrome linked to long telomeres through common and rare genetic variants.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

This study shows NR2E3 activates p53 and induces apoptosis in cancer cells, with its agonist 11a synergizing with Romidepsin to suppress cervical cancer through multiple molecular mechanisms.

This study identifies 20 genome-wide significant loci associated with serum IgA levels and finds genetic correlations with various immune and metabolic traits.

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

The paper develops ancestry-specific polygenic scores for 25(OH)D levels, showing they predict blood concentrations and inform vitamin D supplementation needs.