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 …

We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26
worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 …

… (E Garrison, J Sirén, AM Novak, G Hickey, JM Eizenga, ET Dawson, W Jones, OJ Buske,
MF Lin, B Paten, et al., in prep.). Some projects, like HISAT 2, have not yet documented how …

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

High-quality and complete reference genome assemblies are fundamental for the application
of genomics to biology, disease, and biodiversity conservation. However, such assemblies …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

… Erik Garrison and Gabor Marth … We have implemented this model in FreeBayes [Garrison,
2012]. … Garrison. FreeBayes source repository. https://github.com/ekg/freebayes, 2012. …

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

Motivation: Analysis of genomic sequencing data requires efficient, easy-to-use access to
alignment results and flexible data management tools (eg filtering, merging, sorting, etc.). …

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 …