Deanna M. Church

The paper presents a chromosome-length assembly of the Hawaiian monk seal, revealing genomic stability and low variation, with implications for conservation and evolutionary studies.

The paper introduces a framework for evaluating edited cell libraries generated by genome engineering, defining metrics and connecting analysis to phenotyping approaches.

The paper assembles the olive fruit fly genome using linked-reads and long-read technologies, achieving a highly contiguous Y-chromosome assembly.

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.

This paper introduces Linked-Reads as a method to comprehensively analyze genome variation, showing it can detect both small and large variants and reconstruct haplotypes more effectively than short-read sequencing.

The paper maps the developmental trajectories of endoderm cells in the mouse embryo to reveal lineage relationships and spatial organization during gut formation.

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

This study uses Linked-Read sequencing to assemble a high-quality, contiguous reference genome for Capsicum annuum, demonstrating its utility for complex plant genomes.

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.

This study evaluates Linked-Read sequencing for detecting structural variants, finding it can identify most known events with low sequencing depth and provides breakpoint resolution.