Roshni A. Patel

Large language model-based bibliometric evaluation of population descriptors in human genetics

This study evaluates adherence to NASEM recommendations on population descriptors in GWAS papers using a large language model-based toolkit, finding improvements over time but limited impact post-report publication.

Recommendations for the ethical and accurate use of population descriptors: a trainee-led survey of early-career researchers

This paper surveys early-career researchers on their understanding and implementation of ethical guidelines for population descriptors in genomics, highlighting misconceptions and structural barriers.

Observational epidemiological studies can mitigate genetic confounding with the genetic relatedness matrix

This paper introduces a method using genetic relatedness matrices to control genetic confounding in observational studies, showing improved performance over existing approaches in smaller datasets.

Analytical expectations for ancestry junction accumulation in admixed genomes

The paper develops a model to predict ancestry switches in admixed genomes and validates it against simulations and empirical data.

Prediction and design of transcriptional repressor domains with large-scale mutational scans and deep learning

The paper predicts and designs transcriptional repressor domains using mutational scans and a deep learning model called TENet, identifying functional variants and enabling synthetic design.

Conditional frequency spectra as a tool for studying selection on complex traits in biobanks

The paper introduces conditional frequency spectra to study selection on complex traits in biobanks, finding evidence for stabilizing or purifying selection on GWAS-associated variants.

Increasing equity in science requires better ethics training: a course by trainees, for trainees

The paper describes the development of a course on genetics, ethics, and society designed by trainees to address the lack of ethics training in scientific education.

Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

The paper tests for genetic interactions affecting causal variant effect sizes in gene expression and LDL-C across European and African American populations, finding significant evidence in gene expression but not LDL-C.