Long-read sequencing (LRS) technologies have provided extremely powerful tools to
explore genomes. While in the early years these methods suffered technical limitations, they …

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

The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

Microchromosomes are prevalent in nonmammalian vertebrates [PD Waters et al., Proc.
Natl. Acad. Sci. USA 118 (2021)], but a few of them are missing in bird genome assemblies …

Abstract The Telomere-to-Telomere consortium recently assembled the first truly complete
sequence of a human genome. To resolve the most complex repeats, this project relied on …

Motivation With the current pace at which reference genomes are being produced, the
availability of tools that can reliably and efficiently generate genome assembly summary …

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

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 …

Human genomics is witnessing an ongoing paradigm shift from a single reference sequence
to a pangenome form, but populations of Asian ancestry are underrepresented. Here we …

Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been
systematically assessed because of the limitations of map** short-read sequencing data …