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 …

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

Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …

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

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 …

Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …

The current human reference genome, GRCh38, represents over 20 years of effort to
generate a high-quality assembly, which has benefitted society,. However, it still has many …

Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits and are linked to over 60 disease phenotypes. However, they …

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 …

Deep learning-based variant callers are becoming the standard and have achieved superior
single nucleotide polymorphisms calling performance using long reads. Here we present …