Genetic variation, which is generated by mutation, recombination and gene flow, can reduce
the mean fitness of a population, both now and in the future. This 'genetic load'has been …

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 …

Abstract Ensembl (https://www. ensembl. org) has produced high-quality genomic resources
for vertebrates and model organisms for more than twenty years. During that time, our …

Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is an omics data
consolidator, graphical viewer, and general bioinformatics resource that continues to serve …

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 …

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

Potato (Solanum tuberosum L.) is the world's most important non-cereal food crop, and the
vast majority of commercially grown cultivars are highly heterozygous tetraploids. Advances …

Abstract Ensembl (https://www. ensembl. org) is unique in its flexible infrastructure for access
to genomic data and annotation. It has been designed to efficiently deliver annotation at …

Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

Pangenome references address biases of reference genomes by storing a representative
set of diverse haplotypes and their alignment, usually as a graph. Alternate alleles …