genomics

A new benchmark warns that widely used gene pathway scoring tools can silently erase disease signals from genomic data, potentially distorting research findings. The warning matters because pathway analysis underpins many studies of complex diseases, and researchers may be reporting false negatives without knowing it. Scientists are discussing which methods are affected and how to validate results before relying on these tools.

A new graph transformer model has been proposed to improve RNA velocity predictions in single-cell genomics, according to a report from Bioengineer.org. RNA velocity estimates the direction and speed of cell state changes, and transformer-based architectures applied to gene interaction graphs are being put forward as a way to make these forecasts more accurate for researchers studying cell development.

Researchers have mapped tiny proteins encoded in the genome of Trichomonas vaginalis, the parasite behind trichomoniasis, one of the most common sexually transmitted infections worldwide. The work reveals previously hidden parts of the parasite's genome, potentially opening new avenues for understanding its biology and developing treatments. Coverage so far is limited to specialist science outlets.

Researchers are combining machine learning with classical statistical methods to identify polygenic adaptation — the gradual, small shifts in many genes that populations undergo in response to environmental pressures. The hybrid approach aims to pick up signals too subtle for traditional genome scans alone, potentially clarifying how traits like height, metabolism and disease risk have evolved across human populations.

New genome research on desert vipers points to large structural changes in the genes that make venom, suggesting venom evolution may be driven as much by rearrangements of DNA as by point mutations. The findings could help explain how viper toxins diversify so quickly and may inform future antivenom work. Coverage is so far limited to specialist science outlets, with discussion centered on what these structural variants mean for venom research.

A new web-based tool has been launched that converts rice genome data into instant haplotype maps and breeding markers. The tool is designed to help researchers and breeders rapidly analyze genetic variation in rice, potentially speeding up the development of improved rice varieties. Coverage so far is limited to a single report, with details on the tool's developers, availability, and reception not yet widely reported.

An in-depth description of pharmacogenomics, the field studying how a person's genetics affect their response to drugs, has drawn attention. The science underpins personalised medicine, where prescriptions are tailored to individual DNA profiles to improve effectiveness and reduce adverse reactions. Interest in the topic reflects growing public curiosity about how genetic testing is shaping medical treatment.

Researchers have developed an artificial intelligence system capable of identifying enhancers, the regulatory DNA sequences that control gene activity, and recognizing their patterns across different species. The findings suggest that despite billions of years of evolution, the 'grammar' governing enhancers is conserved among animals, offering new insight into how genomes regulate development and how regulatory code might be read across species boundaries.

New research indicates that genomic inbreeding in pigs leaves detectable genetic signatures that affect production traits such as growth and yield. By analyzing genomic data, scientists can measure how inbreeding influences economically important characteristics in livestock. The findings are relevant for breeding programs seeking to balance genetic selection with the risks of inbreeding depression in pig farming.

GeneDx introduced Easy Order at the American Academy of Pediatrics 2026 conference, a new tool aimed at making genomic testing simpler for doctors to order during routine pediatric care. The company says the offering is designed to reduce administrative hurdles so genome and exome sequencing can become a standard part of everyday practice for children with suspected genetic conditions.

The NIH's Kids First Program is continuing its work on genomic research into childhood cancers and structural birth defects, including congenital anomalies. The initiative shares genomic and clinical data with researchers worldwide to help identify genetic causes of pediatric diseases and support the development of better diagnostics and treatments for affected children and families.

Francis Collins, the geneticist who led the Human Genome Project and later directed the US National Institutes of Health, spoke at the Weinstein-Rosenthal Forum about how his scientific work led him to religious faith. He discussed the relationship between science and belief, drawing on his own journey from being an atheist to becoming a Christian, and argued that the two are compatible rather than in conflict.

New research combining deep protein and gene mapping shows how pig muscle fibers switch between slow-twitch and fast-twitch types. Scientists say the findings clarify the molecular mechanisms behind fiber-type transformation, with potential relevance for meat quality, animal physiology and possibly human muscle biology. The study has drawn attention in science media for tying proteomic and genomic data together to explain the flip.

Researchers have used genome editing to identify a genetic switch in alfalfa that controls the plant's response to drought. The finding could help breeders develop alfalfa varieties that stay productive under water stress, with implications for livestock feed and agriculture in drought-prone regions.

Peer Bork, a leading figure in computational biology known for mapping molecular interaction networks and advancing large-scale analysis of genomes and microbial communities, has died at the age of 62. The death was reported by science news outlet Bioengineer.org. Bork's work shaped how researchers study biological systems and the human microbiome, prompting tributes from across the life sciences community.

Researchers report in Nature a single-molecule chromatin tracing technique that maps genome folding directly in single cells. The method reveals a surprising diversity of megabase-scale heterochromatin domains, challenging the view of heterochromatin as a uniform, repetitive compartment. Scientists following the study say the findings refine how chromatin organisation is understood and may affect research into gene regulation and genome stability.

Researchers have produced the first genome-wide map of transcription start sites in wax moth larvae infected with fungus. The greater wax moth is a common model for studying insect immune responses, and mapping where gene transcription begins during fungal infection offers a detailed view of how the insect's antifungal defences are switched on. The work is being reported in science media as a useful genomic resource for immunology and infection research.

New research published in PLOS Biology examines whether introgression—the movement of genes between species—can spread beneficial alleles as climate warming intensifies. The study finds that strong heat selection promotes introgression and heat tolerance even in the presence of genomic barriers to gene flow, suggesting adaptive genes may cross species boundaries under climate stress.

Researchers have announced CMAISE, a longitudinal multi-omics cohort study aimed at advancing precision medicine for sepsis, a life-threatening condition with limited treatment options. By tracking patients over time and integrating genomic, proteomic and other molecular data, the project seeks to identify biomarkers that could enable tailored therapies. The announcement has drawn attention from the medical research community interested in sepsis diagnostics.

Scientists have sequenced the amphioxus genome, a close living relative of vertebrates, and found unusually high heterozygosity — large genetic differences between chromosome pairs. The extreme variation allowed researchers to study recombination patterns and genome evolution in fine detail, offering clues about how genetic shuffling works and how it shaped the ancestors of all vertebrates, including humans.

Ben Lamm, head of biotech startup Colossal Biosciences, gave an interview to CNBC about the company's work on de-extinction — using genetic engineering and artificial intelligence in efforts to bring back extinct species such as the woolly mammoth. The discussion covered how AI accelerates genome analysis and the scientific and ethical questions surrounding reviving lost species.

STAT reports a writer had their genome analyzed by Anthropic's Claude chatbot in about 30 minutes, an task that traditionally takes specialists far longer. The episode highlights both the speed of AI tools in personal genomics and the absence of standards for validating such results, raising concerns about accuracy, interpretation and medical decision-making.