Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

Atrophy of neurons in the prefrontal cortex (PFC) plays a key role in the pathophysiology of
depression and related disorders. The ability to promote both structural and functional …

The human genome is arguably the most complete mammalian reference assembly 1 , 2 , 3
, yet more than 160 euchromatic gaps remain 4 , 5 , 6 and aspects of its structural variation …

Existing human genome assemblies have almost entirely excluded repetitive sequences
within and near centromeres, limiting our understanding of their organization, evolution, and …

After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

Gene duplication is an important source of phenotypic change and adaptive evolution. We
leverage a haploid hydatidiform mole to identify highly identical sequences missing from the …

Rare copy-number variants (CNVs) have been implicated in autism and intellectual disability.
These variants are large and affect many genes but lack clear specificity toward autism as …

Obtaining high-quality sequence continuity of complex regions of recent segmental duplication
remains one of the major challenges of finishing genome assemblies. In the human and …

A remarkable characteristic of the human major histocompatibility complex (MHC) is its extreme
genetic diversity, which is maintained by balancing selection. In fact, the MHC complex …