Allison N. Rozanski

Complete chromosome 21 centromere sequencing of families with Down syndrome reveals centromere size asymmetry

The paper sequences chromosome 21 centromeres in Down syndrome families, finding extreme size asymmetry in some cases and suggesting it may be a genetic risk factor.

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications

The paper characterizes the genetic diversity and regulatory features of human-specific NOTCH2NL duplications using long-read sequencing and organoid models.

Population-scale Long-read Sequencing in the All of Us Research Program

The paper analyzes long-read sequencing data from the All of Us Research Program to identify structural variants and their associations with diseases in a large cohort of Black or African American participants.

Identification and annotation of centromeric hypomethylated regions with Centromere Dip Region (CDR)-Finder

CDR-Finder identifies hypomethylated regions in centromeres using long-read sequencing data and generates BED files and plots for analysis.

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

The variation and evolution of complete human centromeres

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.

Structurally divergent and recurrently mutated regions of primate genomes

The paper identifies structurally divergent regions in primate genomes and quantifies the impact of structural variants across multiple species.

Gaps and complex structurally variant loci in phased genome assemblies

The paper analyzes gaps and structural variants in phased human genome assemblies, identifying issues with contig ends, misorientations, and large-scale insertions and deletions.

GAVISUNK: Genome assembly validation via inter-SUNK distances in Oxford Nanopore reads

GAVISUNK validates genome assemblies by comparing distances between k-mers in HiFi assemblies and Oxford Nanopore reads to detect misassemblies.

Inversion polymorphism in a complete human genome assembly

The paper analyzes inversion polymorphisms in a complete human genome assembly, showing improved detection and orientation accuracy with the T2T reference compared to GRCh38.

Increased mutation rate and interlocus gene conversion within human segmental duplications.

The paper assesses SNVs within human segmental duplications, finding increased mutation rates and interlocus gene conversion, along with distinct mutational spectra.

Differential investment in visual and olfactory brain regions mirrors the sensory needs of a paper wasp social parasite and its host

The paper compares sensory brain region investment between a paper wasp and its social parasite to understand how sensory systems adapt to different life histories and behavioral needs.