Genomic data are ubiquitous across disciplines, from agriculture to biodiversity, ecology,
evolution and human health. However, these datasets often contain noise or errors and are …

Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …

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 …

Research and medical genomics require comprehensive, scalable methods for the
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …

The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …

Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …

Plant genome sequences catalogue genes and the genetic elements that regulate their
expression. Such inventories further research aims as diverse as map** the molecular …

The Human Genome Project was an enormous accomplishment, providing a foundation for
countless explorations into the genetics and genomics of the human species. Yet for many …

Variant calling is fundamental in bacterial genomics, underpinning the identification of
disease transmission clusters, the construction of phylogenetic trees, and antimicrobial …

Large-scale genomic projects and ancient DNA innovations have ushered in a new
paradigm for exploring human evolutionary history. However, the genetic legacy of …