Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
Mechanisms of change in gene copy number
Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a
major source of variation between individual humans and are an underlying factor in human …
major source of variation between individual humans and are an underlying factor in human …
[HTML][HTML] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
Human-specific NOTCH2NL genes expand cortical neurogenesis through Delta/Notch regulation
The cerebral cortex underwent rapid expansion and increased complexity during recent
hominid evolution. Gene duplications constitute a major evolutionary force, but their impact …
hominid evolution. Gene duplications constitute a major evolutionary force, but their impact …
High-resolution comparative analysis of great ape genomes
INTRODUCTION Understanding the genetic differences that make us human is a long-
standing endeavor that requires the comprehensive discovery and comparison of all forms …
standing endeavor that requires the comprehensive discovery and comparison of all forms …
Phylogenomic analyses provide insights into primate evolution
Comparative analysis of primate genomes within a phylogenetic context is essential for
understanding the evolution of human genetic architecture and primate diversity. We present …
understanding the evolution of human genetic architecture and primate diversity. We present …
Estimating gene gain and loss rates in the presence of error in genome assembly and annotation using CAFE 3
Current sequencing methods produce large amounts of data, but genome assemblies
constructed from these data are often fragmented and incomplete. Incomplete and error …
constructed from these data are often fragmented and incomplete. Incomplete and error …
High-quality draft assemblies of mammalian genomes from massively parallel sequence data
Massively parallel DNA sequencing technologies are revolutionizing genomics by making it
possible to generate billions of relatively short (~ 100-base) sequence reads at very low …
possible to generate billions of relatively short (~ 100-base) sequence reads at very low …
Global diversity, population stratification, and selection of human copy-number variation
INTRODUCTION Most studies of human genetic variation have focused on single-nucleotide
variants (SNVs). However, copy-number variants (CNVs) affect more base pairs of DNA …
variants (SNVs). However, copy-number variants (CNVs) affect more base pairs of DNA …
The bonobo genome compared with the chimpanzee and human genomes
Two African apes are the closest living relatives of humans: the chimpanzee (Pan
troglodytes) and the bonobo (Pan paniscus). Although they are similar in many respects …
troglodytes) and the bonobo (Pan paniscus). Although they are similar in many respects …