Sara R. Rashkin

The paper uses population-scale GUIDE-seq-2 and CHANCE-seq to analyze how genetic variants affect Cas9 activity, finding frequent context-dependent effects on off-target sites.

This paper conducts a genome-wide association study in Nigerian sickle cell disease patients to identify genetic variants associated with fetal hemoglobin levels, finding significant associations at BCL11A and HBS1L-MYB and novel signals in the Nigerian cohort.

This study identifies eight novel lung cancer susceptibility loci and shows that germline variants related to smoking and DNA repair influence somatic mutation burden in lung tumors.

This study evaluates polygenic risk scores across 17 cancer types in two large cohorts, identifying cross-cancer associations and non-cancer phenotype links.

This study identifies six novel genetic loci, including two rare variants, and shows that a polygenic risk score strongly predicts prostate cancer risk.

This study integrates polygenic risk scores with modifiable risk factors and family history to improve cancer risk prediction across 16 cancers using UK Biobank data.

This study identifies genetic loci and amino acid residues associated with immune response to viral infections using serological data from the UK Biobank.

The paper conducts pan-cancer GWAS in two cohorts, identifying novel risk variants and shared genetic basis across 18 cancer types.

The paper identifies genetic links between impaired pulmonary function and increased lung cancer risk, showing causal relationships through Mendelian randomization and highlighting immune-related pathways.

The paper compares two heritability estimation methods and finds low frequency variants contribute significantly to heritability of complex traits.