Diploid genome assemblies are now routinely available, but most read aligners were designed for haploid references, which have long been the gold standard. When reads are aligned to a diploid assembly...

Transposable elements mobilize within and occasionally between genomes, including from host to virus. We identified two insertions of the human BC200 noncoding RNA gene in the poxvirus molluscum conta...

Existing notions of pangenome coordinates rely on hard-to-compute multiple sequence alignments. On the other hand, pangenome-wide exact unique matches (multi-MUMs) can be computed efficiently, and rep...

Central Coast officials are preparing for a potentially wet winter as a strong El Niño is expected to bring heavy rain, flooding, and other impacts to the region.

A new report from Greenpeace found that people may be putting plastic into recycling bins — but almost none of it is actually being recycled. Meanwhile, plastic production is ramping up.

Sex chromosome evolution is among the most dynamic genomic innovations in vertebrates, yet why some lineages evolve XY while others evolve ZW remains unclear. Using chromosome-level genomes from 19 ge...

The NIH plans to close the door on one of the few pathways available to international students on visas to forge a career in biomedical research in the U.S.

Advances in genome assembly methods helped researchers complete reference genomes for humans, marmosets, songbirds, and more, accelerating genomic research.

Transmissible tumors have been reported in a handful of animal species, but never before among fish. Is it possible in humans?

Nature Ecology & Evolution - Citizen science platforms must mitigate against the threat of generative AI

A biology journal that paid peer reviewers found that the approach cut the time to a first editorial decision by 85% and maintained high-quality reviews.

ESSAY: Once a pastime associated with tweed jackets and thermoses, birdwatching is now soaring in popularity among young people.

People are born with variable numbers of de novo germline mutations (DNMs), depending primarily on the ages of their parents. To explore additional causes, we developed an approach to call DNMs from nucleotide differences between siblings in genomic regions inherited identical by descent from both parents. Applying it to whole genome sequences from 28,985 sibling pairs of diverse genetic ancestries present in the UK Biobank and All of Us datasets, as well as 2,330 trios, we identified >800K autosomal DNMs and characterized mutation phenotypes in 27,645 sets of parents. We found subtle shifts in the mutation spectrum but no differences in total DNM rates among genetic ancestry groups, or between smokers and non-smokers. Testing for associations between parental mutation phenotypes and their burden of loss-of-function and deleterious missense variants in a set of 180 DNA repair and maintenance genes, we discovered that disruptions in REV1 and LIG1 increase germline mutation rates, and thus that rare mutator alleles segregate in population cohorts. ### Competing Interest Statement The authors have declared no competing interest. NIH, R35 GM083098

Human-specific NOTCH2NL segmental duplications are implicated in brain cortical expansion. Analysis of 82 long-read assemblies from apes and humans shows independent duplications. Human-specific NOTCH...

Abstract. In most animal species, the sex-determining pathway is typically initiated by the presence/absence of a primary genetic cue at a critical point d

ALT: a group of gorillas are standing in a cage looking out of a hole .

Read easier with Atkinson Hyperlegible Font, crafted for low-vision readers. Download for free and enjoy clear letters and numbers on your computer!

Sex chromosome complement is the largest karyotypic variation observed in humans. X and Y chromosomes were once a pair of homologous autosomes. Although chromosome X and Y differentiated from one anot...

Complete sequences of chromosomes telomere-to-telomere from chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang provide a comprehensive and valuable resource for future evol...