Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

Primate genomics holds the key to understanding fundamental aspects of human evolution
and disease. However, genetic diversity and functional genomics data sets are currently …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Despite their importance in disease and evolution, highly identical segmental duplications
(SDs) are among the last regions of the human reference genome (GRCh38) to be fully …

Chromosomal inversions are an important form of structural variation that can affect
recombination, chromosome structure and fitness. However, because inversions can be …

Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …

Human genomes are typically assembled as consensus sequences that lack information on
parental haplotypes. Here we describe a reference-free workflow for diploid de novo …

This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …

The telomere-to-telomere (T2T) complete human reference has significantly improved our
ability to characterize genome structural variation. To understand its impact on inversion …

The study of chromosome evolution is undergoing a resurgence of interest owing to
advances in DNA sequencing technology that facilitate the production of chromosome-scale …