Goo Jun

The paper identifies systemic epigenetic variants linked to periconceptional environments in human fetal development, finding more variants in Black Americans and associations with cancer and neurodevelopment.

This paper describes a protocol to repurpose Illumina sequencing flow cells for high-resolution spatial transcriptomics, enabling detailed spatial gene expression analysis with improved resolution and cost efficiency.

FICTURE provides a scalable segmentation-free method for analyzing high-resolution spatial transcriptomics data, revealing detailed tissue architecture in complex regions.

StocSum generates stochastic summary statistics for whole genome sequencing studies without external reference panels, enabling various genetic analyses and improving utility for underrepresented populations.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

The paper identifies CoRSIVs with strong genetic control of methylation and links them to transposable elements and disease.

The paper catalogs structural variants across 19,652 genomes and identifies their associations with proteomic measurements and disease phenotypes.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

Parliament2 combines multiple structural variant callers to improve accuracy and speed, offering a Docker-based solution for efficient variant calling.

The paper analyzes the proteomic architecture of human coronary and aortic atherosclerosis using mass spectrometry data from 200 specimens, identifying key protein networks and regulatory features associated with early disease.

The paper identifies and analyzes non-crossover gene conversion events in humans, finding strong GC bias and unexpected clustering of conversion tracts.