Catrina C. Fronick

The paper develops Nanopore-HiChIP to map enhancer hubs and shows they buffer allelic regulatory variation through kinetic compensation, preserving balanced transcriptional output.

This paper uses long-read cDNA sequencing to identify novel transcripts and spliceosome-mutant-enriched isoforms in AML and MDS, providing a resource for improving short-read RNA-seq analyses.

This study evaluates three cell preservation methods for scRNA-seq across multiple sites, showing concordant cell type results but platform-specific gene expression differences and better granulocyte retention with preservation methods.

The paper identifies intermediate methylation regions in normal cells as epimutation hotspots in cancer, showing they are prone to clonal epimutations in leukemia and other cancers.

This study uses linked-read sequencing to phase somatic mutations in multiple myeloma, extending haplotype blocks and revealing phasing patterns in key mutated genes.

This study identifies high-quality neoantigens in follicular lymphoma patients using WES and RNA-Seq, and initiates a clinical trial of personalized neoantigen vaccines combined with PD-1 blockade.

This paper develops species-specific single-cell T cell receptor sequencing (scTCRseq) for dogs, enabling analysis of T cell repertoires in cancer immunotherapy trials.

This study uses ultra-deep exome sequencing to identify recurrent mutations in classical Hodgkin lymphoma HRS cells, demonstrating its utility for analyzing genomic variants in large patient cohorts.

This paper presents a domestic cat whole exome sequencing resource, demonstrating its effectiveness in identifying known and novel disease-associated variants across various breeds.

The paper uses exome sequencing and scRNA-seq to identify donor and recipient immune cells in kidney transplants and finds distinct transcriptional profiles in donor macrophages and T cells.

This paper links subclonal mutations to transcriptional profiles in AML using integrated single-cell RNA-sequencing and whole genome sequencing.

The paper identifies somatic mutations with prognostic effects in ER+ breast cancer using genomic data from multiple cohorts.