Jennifer L. Gerton

This study uses saturation barcoding and ultra-long-read sequencing to resolve the structure and variation of human nucleolar organizer regions (NORs) in the K562 cell line.

Short-read genomes can flag Robertsonian translocation carriers by counting rDNA distal junction (DJ) copies (8 rather than 10); UK Biobank screening found 583 candidates, 1 in 841.

The paper identifies evolutionary processes in acrocentric chromosomes of great apes, including repeat enrichment, inversion, and gene family amplification, with implications for human genomic instability.

This study shows that impaired post-ovulatory debris clearance in aged ovaries leads to persistent corpus luteum accumulation and fibroinflammation.

The paper presents the first telomere-to-telomere genome for the common marmoset, revealing genomic features and a pangenome resource for biomedical research.

This study investigates how variations in centromeric alpha-satellite array size affect centromere function during mitosis, finding that smaller arrays are more prone to missegregation and cohesion fatigue.

This study investigates nucleolar changes during zebrafish oogenesis and finds similar patterns in mouse oocytes, suggesting conserved nucleolar remodeling for translational adaptation.

KaryoScope annotates genome assemblies at base-pair resolution across multiple feature classes quickly and without alignment, revealing structural variation in centromeres and subtelomeres.

The paper investigates how pericentromeric repeat copy number affects chromosome segregation and gene expression in fission yeast by analyzing natural variation and engineered strains.

This paper presents near-complete, haplotype-resolved assemblies of a pancreatic cancer genome and normal tissue, identifying extensive somatic variants and epigenetic changes in previously excluded regions.

The paper uses a complete diploid human genome to study centromeric chromatin organization, revealing that DNA methylation regulates centromere structure and plasticity.

The paper presents T2T reference genomes from a multi-generational pedigree to study genetic and epigenetic inheritance across the complete genome.

This study assembles human Robertsonian chromosomes, identifies a common breakpoint and centromere epigenetic changes, and explores structural features enabling their formation.

This study identifies multinucleated giant cells (MNGCs) in aging ovaries, showing their unique immune and degradation-related molecular signatures through transcriptomic and imaging analyses.

The paper identifies HSat3 DNA as a platform for transcription factor binding, showing it enhances nucleolar RNA Polymerase I activity through Hippo pathway interactions.

The paper investigates epigenetic regulation of rDNA arrays, showing DNA methylation controls their activity and inheritance across generations.

The paper produces gapless assemblies of ape sex chromosomes for five great apes and a lesser ape, revealing divergence in Y chromosomes and evolutionary dynamics.

A second complete human centromere set (CHM1) plus 31 nonhuman primate centromeres reveals extensive α-satellite higher-order repeat variation, kinetochore repositioning, and saltatory emergence of new repeats.

The paper presents the complete sequence of a human Y chromosome, correcting errors in the GRCh38 reference and adding over 30 million base pairs.

The paper evaluates sequencing and assembly methods to create high-quality diploid human genome assemblies, finding that long reads and haplotype sorting improve accuracy and completeness.

A gapless 3.055 billion bp human genome from HiFi and ultra-long nanopore reads resolves all centromeric arrays and acrocentric p-arms, adding 182 Mbp of new sequence.

The paper presents the first de novo repeat discovery and annotation of a complete human reference genome, identifying novel satellite arrays and characterizing new classes of complex repeats.

The paper presents a comprehensive analysis of fully assembled human centromeres, revealing their architecture, variation, and evolutionary dynamics at high resolution.

This paper completes the linear assembly of human chromosome 8, resolves long-standing gaps, and analyzes the evolutionary history of its centromeric regions across great apes.

The paper presents a gapless, telomere-to-telomere assembly of the human X chromosome using ultra-long-read nanopore sequencing and complementary technologies.

This study shows that cohesin is essential for zygotic genome activation in zebrafish by redistributing to active genes and influencing chromosome architecture.