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 …

Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

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

Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading
researchers to reflect on the key challenges and opportunities faced by the field of genetics …

New genome assemblies have been arriving at a rapidly increasing pace, thanks to
decreases in sequencing costs and improvements in third-generation sequencing …

Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …

Structural genomic variants (SVs) are ubiquitous and play a major role in adaptation and
speciation. Yet, comparative and population genomics have focused predominantly on gene …

Domestication and breeding have reshaped the genomic architecture of chicken, but the
retention and loss of genomic elements during these evolutionary processes remain …