The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …

Direct comparisons of human and non-human primate brains can reveal molecular pathways
underlying remarkable specializations of the human brain. However, chimpanzee tissue is …

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 …

Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly
to autism spectrum disorders (ASDs) but have been primarily investigated in European …

To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource …

INTRODUCTION The accurate sequence and assembly of genomes is critical to our
understanding of evolution and genetic variation. Despite advances in short-read sequencing …

Since its introduction in 2011 the variant call format (VCF) has been widely adopted for
processing DNA and RNA variants in practically all population studies—as well as in somatic and …

Haplotype-resolved genome assemblies are important for understanding how combinations
of variants impact phenotypes. To date, these assemblies have been best created with …

The sequence and assembly of human genomes using long‐read sequencing technologies
has revolutionized our understanding of structural variation and genome organization. We …