Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Long-read sequencing has the potential to transform variant detection by reaching currently
difficult-to-map regions and routinely linking together adjacent variations to enable read …

Tea is an important global beverage crop and is largely clonally propagated. Despite
previous studies on the species, its genetic and evolutionary history deserves further …

Recent long-read assemblies often exceed the quality and completeness of available
reference genomes, making validation challenging. Here we present Merqury, a novel tool …

For half a century population genetics studies have put type II restriction endonucleases to
work. Now, coupled with massively‐parallel, short‐read sequencing, the family of RAD …

The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing …

De novo assembly of a human genome using nanopore long-read sequences has been
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …

The number of human genomes being genotyped or sequenced increases exponentially
and efficient haplotype estimation methods able to handle this amount of data are now …