Nathan S. Abell

The paper presents a high-resolution map of RHO missense variants' trafficking and evaluates pharmacologic correction with YC-001, identifying pathogenic variants and therapeutic potential.

This study uses deep mutational scanning to analyze TYK2 variants and their impact on function and drug response, identifying novel therapeutic targets and degradation strategies.

This paper identifies covalent modulators that target and degrade IRF5 and IRF8, key inflammatory transcription factors, with TH-B10 showing potent and selective degradation of IRF8.

This study applies high-resolution deep mutational scanning to the melanocortin-4 receptor to identify functionally significant variants and guide drug development.

The paper evaluates how base editor design features affect editing efficiency and mutation patterns in mammalian cells, identifying DivA-BE as the most effective variant.

The paper identifies novel transcripts, eQTLs, and caQTLs in African populations and fine-maps GWAS signals for complex diseases.

This study identifies multiple causal variants underlying genetic associations in humans using MPRA and eQTL data.

The paper assesses the impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx, finding that local ancestry adjustment improves power but has limited effect on colocalization probabilities.

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

This study identifies fRPE-specific genes and variants associated with AMD and myopia, revealing novel e/sQTL and mechanisms linking a common variant to both diseases.

The paper analyzes gene expression and splicing changes in human aging using longitudinal RNA sequencing data from the PIVUS study, finding stability in most genetic regulation but dynamic changes in a subset of genes.

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.