Megan Y. Dennis

The paper assembles chromosome-scale diploid genomes of prairie and meadow voles using a single-library approach, identifying a prairie-vole-specific duplication of Avpr1a associated with pair bonding.

The paper investigates how cis-regulatory elements in human segmental duplications contribute to expression divergence, finding that duplicated CREs show moderate functional divergence and may drive human-specific regulatory patterns.

CiFi improves Hi-C analysis by combining 3C with PacBio HiFi sequencing, enabling better coverage in repetitive regions and low-input samples.

The paper identifies human-specific gene expansions linked to brain evolution by analyzing genome sequences and functional models in zebrafish.

This paper introduces a conditional latent diffusion model to separate batch effects from morphological features in zebrafish imaging data, enabling accurate genotype classification.

This study identifies local genetic adaptation to habitat in wild chimpanzees, particularly to pathogens like malaria, using newly generated exomes.

This paper uses zebrafish to study SRGAP2 duplication, showing its role in microglia and visual system development, with phenotypes resembling human conditions.

This study identifies LRRC37B as a human-specific gene that modulates neuronal excitability by interacting with voltage-gated sodium channels in cortical pyramidal neurons.

The paper introduces FixItFelix and a modified GRCh38 reference to improve variant calling and expression analysis in genes with reference errors, showing benefits across multiple sequencing types and populations.

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

The T2T-CHM13 reference genome improves read mapping and variant calling across diverse samples, reducing false positives and enabling novel variant discovery.

The paper evaluates CRISPR gene-editing tools in zebrafish by comparing in vivo editing efficiencies with computational predictions and analyzing control embryos for spurious effects.

The paper investigates differential expression of human duplicated genes and finds cis-regulatory divergence contributes to novel expression patterns in recent gene duplicates.

The paper develops a high-throughput phenotyping protocol for zebrafish larvae to assess autism-related mutant models, identifying morphological and behavioral defects in syngap1b and slc7a5 mutants.

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

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

The paper identifies a genetic variant associated with cold adaptation in humans, showing a latitudinal cline and linking it to migraine prevalence.