Jeffrey J. Johnston

This study quantifies polygenic liability in rare disease probands and finds associations between rare disease phenotypes and polygenic scores, supporting complex trait influences on Mendelian variant interpretation.

The paper uses long-read whole genome sequencing and polygenic scores to identify structural variants linked to rare diseases and prioritize candidate genes for functional validation.

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.

The paper identifies functionally consequential noncoding variants in undiagnosed rare disease patients using a massively parallel reporter assay and integrative analysis.

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.