Nearly all genetic variants that influence disease risk have human-specific origins; however,
the systems they influence have ancient roots that often trace back to evolutionary events …

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

Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

Epigenetic dysregulation is a defining feature of tumorigenesis that is implicated in immune
escape,. Here, to identify factors that modulate the immune sensitivity of cancer cells, we …

Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …

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 …

The cerebral cortex is at the core of brain functions that are thought to be particularly
developed in the human species. Human cortex specificities stem from divergent features of …

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

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