Rachel A. Ungar

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

The paper introduces a data model and dataset for rare disease research, enabling interoperable multi-omic data integration across clinical sites.

The paper identifies individuals with minor spliceopathies by analyzing transcriptome-wide splicing outliers in RNA-seq data from rare disease cohorts.

The paper integrates long-read sequencing and gene expression to prioritize functional structural variants and tandem repeats in rare disease patients, identifying potential causal variants in a neurodevelopmental disorder.

The paper investigates functional rare variants on the X-chromosome and autosomes, showing sex-biased effects and pharmacogenomic implications.

This study examines how different genome builds affect RNA-seq results in rare disease samples and recommends cross-referencing with a database of build-dependent genes for more accurate transcriptomics analysis.

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.

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