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

The nervous system—in particular, the brain and its cognitive abilities—is among humans'
most distinctive and impressive attributes. How the nervous system has changed in the …

Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been
systematically assessed because of the limitations of mapping short-read sequencing data …

To date, the only Neandertal genome that has been sequenced to high quality is from an
individual found in Southern Siberia. We sequenced the genome of a female Neandertal …

Genetic changes causing brain size expansion in human evolution have remained elusive.
Notch signaling is essential for radial glia stem cell proliferation and is a determinant of …

The cerebral cortex underwent rapid expansion and increased complexity during recent
hominid evolution. Gene duplications constitute a major evolutionary force, but their impact …

INTRODUCTION Understanding the genetic differences that make us human is a long-
standing endeavor that requires the comprehensive discovery and comparison of all forms …

We have developed a computational method based on polyploid phasing of long sequence
reads to resolve collapsed regions of segmental duplications within genome assemblies …

Denisovans, a group of now extinct humans who lived in Eastern Eurasia in the Middle and
Late Pleistocene, were first identified from DNA sequences just over a decade ago. Only ten …

Structural variation (SV) is a large difference (typically> 100 bp) in the genomic structure of
two genomes and includes both copy number variation and variation that does not change …