Chad Daniel Huff

This study identifies transcriptomic and neurological mechanisms of stuttering using GWAS, TWAS, MR, and neuroimaging analyses of large datasets.

This study identifies novel genetic risk loci for pancreatic ductal adenocarcinoma in African ancestry individuals through admixture mapping and GWAS.

This paper shows how data processing steps in GWAS affect reproducibility and stability of set-based analyses, and provides tools to address these issues.

The paper identifies ancestry-specific eQTL effects in Hispanic/Latino and African American populations, showing how local ancestry influences gene expression and disease risk.

This study benchmarks five DNA foundation models across genomic tasks, finding that mean token embeddings improve classification performance and specialized models outperform general ones in gene expression and QTL prediction.

This study identifies genetic risk mechanisms for six cancers by analyzing isoform-level expression data, finding more associations and greater heritability explained compared to gene-level analysis.

This study identifies 27 genes associated with head and neck cancer risk through exome sequencing and finds significant interactions between DNA repair gene variants and cigarette smoking.

This study identifies seven novel genetic loci associated with high-grade serous ovarian cancer risk using a large-scale GWAS and develops polygenic scores for improved risk prediction.

This paper develops a method to identify undiagnosed carriers of a rare Mendelian disease variant by detecting distant familial relatedness in biobanks.

The paper improves prostate cancer risk stratification across multiple ancestries using a new polygenic hazard score with additional SNPs, showing higher hazard ratios and positive predictive value for clinically significant prostate cancer.

This study evaluates a polygenic hazard score in multi-ethnic populations and finds it is associated with age at prostate cancer diagnosis, aggressive diagnosis, and death across European, Asian, and African ancestries.

The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.