Jeff D. Vierstra

Functional dissection of complex and molecular trait variants at single nucleotide resolution

This study functionally characterizes 221,412 trait-associated variants using MPRA in 5 cell types, identifying 12,025 regulatory variants and revealing widespread epistasis and non-TF mechanisms.

Statistical framework for calling allelic imbalance in high-throughput sequencing data

The paper introduces MIXALIME, a statistical framework for detecting allele-specific events in sequencing data, and demonstrates its application in constructing an atlas of allele-specific chromatin accessibility.

A consensus variant-to-function score to functionally prioritize variants for disease

This paper introduces a consensus variant-to-function score to prioritize disease-causing variants, showing improved performance in heritability enrichment and fine-mapping.

Large-scale discovery of potent, compact and lineage specific enhancers for gene therapy vectors

The paper identifies potent, compact, and lineage-specific enhancers for gene therapy vectors using epigenomic data and validates their efficacy in correcting a thalassemia phenotype.

Index and biological spectrum of accessible DNA elements in the human genome

The paper creates high-precision maps of DNase I hypersensitive sites across 733 human biosamples and develops a regulatory vocabulary to annotate regulatory DNA, concentrating disease-associated signals.

Global reference mapping and dynamics of human transcription factor footprints

The paper maps transcription factor footprints across 243 human cell and tissue types, revealing their structure, function, and relationship to genetic variation and disease.

Chromatin dynamics during hematopoiesis reveal discrete regulatory modules instructing differentiation

This study maps chromatin dynamics and gene expression during human erythropoiesis, revealing regulatory modules that guide lineage commitment and maturation.