Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …

Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …

We present a high-quality genome sequence of a Neanderthal woman from Siberia. We
show that her parents were related at the level of half-siblings and that mating among close …

The current rate of species extinction is rapidly approaching unprecedented highs, and life
on Earth presently faces a sixth mass extinction event driven by anthropogenic activity …

The complete assembly of each human chromosome is essential for understanding human
biology and evolution,. Here we use complementary long-read sequencing technologies to …

The rich diversity of morphology and behavior displayed across primate species provides an
informative context in which to study the impact of genomic diversity on fundamental …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

The kākāpō is a flightless parrot endemic to New Zealand. Once common in the archipelago,
only 201 individuals remain today, most of them descending from an isolated island …

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 …