Structural polymorphism and diversity of human segmental duplications

H Jeong, PC Dishuck, DA Yoo, WT Harvey… - Nature Genetics, 2025 - nature.com
Segmental duplications (SDs) contribute significantly to human disease, evolution and
diversity but have been difficult to resolve at the sequence level. We present a population …

[HTML][HTML] Deciphering the role of structural variation in human evolution: a functional perspective

C Karageorgiou, O Gokcumen, MY Dennis - Current opinion in genetics & …, 2024 - Elsevier
Advances in sequencing technologies have enabled the comparison of high-quality
genomes of diverse primate species, revealing vast amounts of divergence due to structural …

Complete sequencing of ape genomes

DA Yoo, A Rhie, P Hebbar, F Antonacci… - BioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
We present haplotype-resolved reference genomes and comparative analyses of six ape
species, namely: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan …

Human-specific genetic hallmarks in neocortical development: focus on neural progenitors

L Tynianskaia, M Heide - Current Opinion in Genetics & Development, 2024 - Elsevier
The evolutionary expansion of the neocortex in the ape lineage is the basis for the
development of higher cognitive abilities. However, the human brain has uniquely increased …

Structural variation, selection, and diversification of the NPIP gene family from the human pangenome

PC Dishuck, KM Munson, AP Lewis, ML Dougherty… - bioRxiv, 2025 - biorxiv.org
The NPIP (nuclear pore interacting protein) gene family has expanded to high copy number
in humans and African apes where it has been subject to an excess of amino acid …

[HTML][HTML] Gene expansions contributing to human brain evolution

DC Soto, JM Uribe-Salazar, G Kaya, R Valdarrago… - …, 2024 - pmc.ncbi.nlm.nih.gov
Genomic drivers of human-specific neurological traits remain largely undiscovered.
Duplicated genes expanded uniquely in the human lineage likely contributed to brain …

Revolutionizing genomics and medicine—one long molecule at a time

A Conesa, A Hoischen, FJ Sedlazeck - Genome Research, 2024 - genome.cshlp.org
Applications in Biology and Medicine” garnered a record number of submissions, reflecting
both the intense and broad interest in the technologies and the next round of revolutionary …