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

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

The complete assembly of each human chromosome is essential for understanding human
biology and evolution 1 , 2 . Here we use complementary long-read sequencing …

In order to provide a comprehensive resource for human structural variants (SVs), we generated
long-read sequence data and analyzed SVs for fifteen human genomes. We sequence …

The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

In an effort to more fully understand the full spectrum of human genetic variation, we
generated deep single-molecule, real-time (SMRT) sequencing data from two haploid human …

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

INTRODUCTION The rhesus macaque (Macaca mulatta) is one of the most widely used
nonhuman primate (NHP) models for studying human biology and disease. As a representative …

A complete reference assembly is essential for accurately interpreting individual genomes
and associating variation with phenotypes. While the current human reference genome …

Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and
complex regions of the genome because these regions cannot be unambiguously mapped …