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 …

Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

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

Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …

Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …

INTRODUCTION The centromeres of eukaryotic chromosomes assemble the multiprotein
kinetochore complex and thereby position attachment to the spindle microtubules, allowing …

Typical genotyping workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …

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

INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …