Kristen Jepsen

Single-cell analysis of Plasmodium falciparum transcripts after drug perturbation identifies feedback regulation as well as increased transmission potential

This study uses scRNA-seq to analyze Plasmodium falciparum transcript responses to three drugs, revealing distinct transcriptional profiles and feedback regulation.

Long-Read Genome Sequencing Improves Detection and Functional Interpretation of Structural and Repeat Variants in Autism

This study shows that long-read genome sequencing improves detection of structural and repeat variants in autism and links them to functional consequences.

Multi-omic QTL mapping in early developmental tissues reveals phenotypic and temporal complexity of regulatory variants underlying GWAS loci

The paper identifies multi-omic QTLs in early developmental tissues and shows that GWAS loci often involve complex regulatory variants not captured by eQTLs alone.

Analysis of regulatory network modules in hundreds of human stem cell lines reveals complex epigenetic and genetic factors contribute to pluripotency state differences between subpopulations

The paper identifies regulatory network modules in human stem cells, showing epigenetic and genetic factors influence pluripotency state differences.

eQTL mapping in fetal-like pancreatic progenitor cells reveals early developmental insights into diabetes risk

The paper maps eQTLs in fetal-like pancreatic progenitor cells, identifying regulatory variants that influence diabetes risk by affecting gene expression and splicing in early development.

Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease

This study identifies causal genetic variants for cardiac traits by integrating spatiotemporal eQTL analysis with GWAS data, showing stage- and tissue-specific effects.

The breast pre-cancer atlas illustrates the molecular and micro-environmental diversity of ductal carcinoma in situ

The paper creates a breast pre-cancer atlas by analyzing multiple micro-dissected regions from DCIS cases, revealing molecular and micro-environmental diversity and immune states associated with progression risk.

Mutational profiling of micro-dissected pre-malignant lesions from archived specimens

This paper develops a method to improve mutational profiling of pre-malignant lesions using degraded FFPE DNA, achieving better coverage and variant calling accuracy.

Cross-Site Comparison of Ribosomal Depletion Kits for Illumina RNAseq Library Construction

The paper compares ribosomal depletion kits for RNAseq library construction, finding differences in ease of use and transcript length impact on library efficiency.