Nicole L. Washington

Population genomic screening identified familial hypercholesterolemia patients, leading to improved lipid-lowering therapies and LDL-C reductions.

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

This paper develops a method to predict Lp(a) levels from genomic data, combining SNV risk scores and KIV-2 repeat counts, and shows it improves risk prediction for cardiovascular disease in diverse populations.

This study evaluates genetic screening approaches for breast cancer risk, finding that combining rare and common variants improves risk stratification.

The paper identifies GCK variant carriers at increased risk for T2D and its complications, despite their glucose elevations not meeting standard T2D criteria.

The paper investigates the impact of hypertension on the positive predictive value (PPV) for polycystic kidney disease in carriers of PKD1 and PKD2 variants.

The paper introduces Power Window, a method to identify clinically impactful regions of genes using population-scale datasets, showing improved accuracy in variant effect prediction.

The paper uses symptom-based case predictions to conduct a GWAS on COVID-19, finding new genetic susceptibility insights and suggesting different genetic architectures for severity and susceptibility.

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.

The paper analyzes >200,000 exomes to identify ACE2 gene variants that may affect SARS-CoV-2 interaction and loss of function intolerance.

The paper analyzes rare variants in 54,000 exomes across 3,166 phenotypes, identifying 78 gene-based associations with significant effects on human traits.

The paper finds that 90% of carriers of inherited disease variants are missed in current medical practice, highlighting the need for population-based genetic screening.

The paper outlines ten lessons for designing, provisioning, and reusing persistent identifiers to improve data integration in life sciences.

The paper describes the Monarch Initiative, a platform that integrates multimodal data across species to enhance genotype-phenotype analysis and precision medicine.

The paper introduces the Monarch Initiative, a resource that unifies genomic and phenotypic data across species to improve understanding of health and disease.