John E. Gorzynski

Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy

The paper develops a multidimensional assay to assess variant effects in MYBPC3, reclassifying variants and uncovering disease mechanisms in hypertrophic cardiomyopathy.

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

Long-read genome sequencing and multi-omics in aging and neurodegeneration

The paper uses long-read genome sequencing and multi-omics data to identify structural variants associated with aging and neurodegenerative diseases, finding that SVs are more likely to be causal than SNVs.

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

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.

Local read haplotagging enables accurate long-read small variant calling

This paper introduces a local haplotype approximation method to improve variant calling accuracy across long-read sequencing platforms without increasing computational overhead.

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndrome

The paper applies complete long read sequencing to undiagnosed patients, identifying a 16kb intragenic duplication in EHMT1 causing Kleefstra syndrome.

Deconvoluting complex correlates of COVID19 severity with local ancestry inference and viral phylodynamics: Results of a multiomic pandemic tracking strategy

The paper integrates multi-omic data to identify genetic and microbiome factors associated with severe COVID-19, independent of ancestry and social factors.

High-throughput SARS-CoV-2 and host genome sequencing from single nasopharyngeal swabs

This paper develops a high-throughput method to generate host and pathogen genomic data from single nasopharyngeal swabs of COVID-19 patients.