Tag

Genomics

All articles tagged with #genomics

science1 day ago•6 min saved

Tiny mouse thrives at 6,700 meters, challenging altitude limits

A tiny Andean leaf-eared mouse (Phyllotis vaccarum) lives above 6,700 meters—the highest record for any mammal—thanks to enhanced thermogenic capacity and more efficient mitochondrial energy use under hypoxic conditions. The population shows little genetic structure across sea level to the summits, implying ongoing gene flow. Genomic analyses reveal selection on genes for lipid oxidation, mitochondrial function, and toxin processing, suggesting adaptation to diverse elevations and diets. Understanding these mechanisms could inform human health research into oxygen deprivation and related diseases.

via The Times of India|

#adaptation #andean-leaf-eared-mouse #genomics

science3 days ago•10 min saved

Digestive cancers show distinct microbiomes, large study finds

A large-scale analysis of Genomics England’s 100,000 Genomes Project used stringent methods to separate genuine microbial signals from lab contamination. The study found that most cancers (including brain, breast and kidney cancers) do not have a microbiome distinguishable from background, suggesting earlier reports may reflect contamination. In contrast, mouth, esophagus, stomach and colorectal cancers showed clear, consistent microbial life, including bacteria, viruses, fungi and archaea, with microbe communities varying by tumor location and subtype. The team released their data and a list of confidently present microbes to help other researchers apply the rigorous approach, with implications for understanding how microbiomes influence tumor development, treatment response, and potentially improving GI cancer diagnosis and early detection.

via The Conversation|

#cancer #contamination #genomics

science11 days ago•7 min saved

Hidden DNA From Historic Parchments Recovered Without Damaging Them

Scientists demonstrated a nondestructive method to harvest cellular material from 91 parchment manuscripts dating back about 1,300 years, enabling next-generation sequencing to reveal genetic information about the animals used, farming practices, and trade networks without harming the artifacts.

via SciTechDaily|

#ancient-dna #genomics #manuscripts

archaeology14 days ago•8 min saved

European Neanderthals Revealed as Diverse, Interconnected Communities

A Leiden-led study analyzed 27 Neanderthal genomes from France and Belgium, including a Les Cottés individual, revealing diverse, interconnected communities with distinct ancestral lineages and no evidence of recent contact with modern humans.

via Archaeology Magazine|

#ancientdna #archaeology #europe

health18 days ago•4 min saved

AI helps crack 18 undiagnosed pediatric cases at Boston Children’s Hospital

Researchers at Boston Children’s Hospital used OpenAI’s o3 Deep Research to analyze hundreds of genomes and clinicians’ notes, diagnosing 18 previously undiagnosed children with rare neurodevelopmental, neuromuscular, and early psychosis conditions. In a study of 376 undiagnosed cases, the AI system helped identify new diagnoses in about 5% of cases, dramatically shortening the path to answers when used in collaboration with clinicians. Experts caution that AI is not a universal cure or replacement for human review and should be used as a tool to navigate complex genetic information.

via New York Post|

#artificial-intelligence #genomics #health

technology19 days ago•4 min saved

AI-driven diagnoses unlock 18 rare pediatric mysteries in Boston

An NEJM study reports that an OpenAI diagnostic model released in 2025 helped identify new diagnoses for 18 children at Boston Children's Hospital by analyzing 376 genomes; the AI served as a diagnostic aid requiring clinician review, and researchers call the results a potential game changer for solving rare neurodevelopmental and neuromuscular disorders.

via The Independent|

#ai #boston #genomics

health19 days ago•11 min saved

AI helps solve 18 rare pediatric illnesses doctors couldn't crack

OpenAI’s o3 model aided physicians at Boston Children’s Hospital in diagnosing 18 children with previously unsolved rare illnesses; a NEJM study analyzed 376 undiagnosed genomes and found AI contributed to nearly 5% of new diagnoses when used with patient data and doctors’ notes, with clinicians providing final review. One patient, Kyra Benton, was diagnosed with myofibrillar myopathy after years of uncertainty, illustrating AI’s potential as a tool to accelerate rare-disease diagnoses rather than replace clinicians.

via The Independent|

#ai #boston #genomics

science21 days ago•5 min saved

Cockroaches Harbor Thousands of Bacterial DNA Fragments in Their Genomes

A University of Sydney-led study analyzing 18 cockroach and termite genomes finds pervasive horizontal gene transfer from the bacterial endosymbiont Blattabacterium cuenoti, with about 40,485 DNA fragments (including non-coding bits) embedded in cockroach DNA—some persisting for up to ~28.7 million years—raising questions about their function and suggesting HGT may be more common in eukaryotes than previously thought.

via ScienceAlert|

#cockroaches #evolution #genomics

science22 days ago•113 min saved

Denisovan DNA still influences Oceanian immunity, but researchers remain unsure why

A large, first-of-its-kind map of Denisovan-derived DNA in Oceanian populations identified about 3,127 variants that still influence immune-system genes today; many are unique to Oceania, and natural selection increased their frequency in Near Oceania, suggesting Denisovan DNA helped defend against novel pathogens, though the exact benefits vary and researchers say more Oceanian genome sequencing is needed to fully understand health implications.

via Live Science|

#denisovan #genomics #human-evolution

technology23 days ago•7 min saved

AI unlocks hidden genetic diagnoses for kids at Boston Children’s Hospital

Boston Children’s Hospital used OpenAI’s o3 model to reanalyze 376 undiagnosed pediatric genomes, identifying 18 new diagnoses across neurodevelopmental, neuromuscular, and other rare conditions, demonstrating AI’s potential to speed up rare-disease diagnoses with continued human oversight.

via NBC News|

#artificial-intelligence #genomics #openai-o3

anthropology24 days ago•25 min saved

Near Oceania’s Ancient Genome: Denisovan Heritage Deep in Pacific DNA

Researchers sequenced 177 high-coverage genomes from 12 Near Oceanian populations and found that this region harbors some of the oldest human DNA, including a rich Denisovan legacy from at least three Denisovan-like groups. Near Oceanian genomes contain about 2.5 times more archaic DNA than Europeans and far more Denisovan DNA than East Asians, with high-frequency archaic variants linked to immunity and skeletal development, suggesting multiple interbreeding events and adaptive benefits. The findings reshape our understanding of Denisovans and human evolution and have implications for medical research in Oceanian populations.

via ZME Science|

#anthropology #archaic-dna #denisovan

science1 month ago•9 min saved

Ancient Complex Cells Shaped by Multiple Bacterial Gene Waves

New genome analyses show eukaryotes emerged from a mosaic of genes: early contributions from Asgard archaea, followed by multiple bacterial waves (including alphaproteobacteria for mitochondria, plus Planctomycetota and Myxococcota) and even giant viruses, painting a gradual, complex picture rather than a single endosymbiotic event.

via Ars Technica|

#endosymbiosis #eukaryotes #evolution

genomics1 month ago•11 min saved

Parental Genes Leave a Lasting Imprint Beyond Inherited DNA

A large international study analyzing over 30,000 families shows that a child’s traits—height, BMI, and school test scores—are shaped not only by their own DNA but also by the environment created by parents’ genes and by parent-of-origin effects. Researchers developed a method to separate direct genetic effects from indirect (genetic nurture) and parent-of-origin effects, finding that parental influences are substantial and that the same genetic regions can influence traits through both inheritance and environment. The findings have broad implications for interpreting genetic studies and shaping policy, suggesting that family environment plays a powerful role and that only direct genetic effects may be ideal drug targets.

via News-Medical|

#genetic-nurture #genetics #genomics

science1 month ago•88 min saved

Consensus GWAS uncovers 91 ADRD risk loci and ties polygenic risk to Alzheimer’s pathology

A European-ancestry meta-analysis of ADRD GWAS (128,681 cases/proxy; 849,833 controls) identified 91 genome-wide loci, including 16 new ones, with 56 loci influencing clinically diagnosed Alzheimer’s disease (18 tier-2 loci needing external validation). Excluding APOE, polygenic scores were linked to AD pathology: in top-decile individuals, Braak stage >4 and moderate/severe neuritic plaques at death were about 2× more likely, though overall predictive power is modest (roughly 4% of variance explained; small AUC gains). Results held across main, no-proxy, and no-biobank analyses and showed microglia enrichment and pathways tied to tau, amyloid, lipids, and immunity; genetic correlations connected ADRD with Lewy body dementia, ALS, PD and educational attainment. The authors call for larger well-characterized neuropathology datasets to clarify locus effects on AD pathology versus other dementias and provide further external validation for certain loci and no-proxy/no-biobank statistics for broader use.

via Nature|

#alzheimers-disease #genomics #gwas

health1 month ago•3 min saved

Genomic test could spare millions of breast cancer patients from chemotherapy

The Optima trial, involving over 4,000 women with hormone-positive breast cancer, used the Prosigna genomic test to guide treatment. Women with low genomic risk received hormone therapy alone, while high-risk patients still received chemotherapy; at five years, survival and cancer-free rates were nearly identical (95% vs 94%), suggesting many could safely skip chemotherapy and reduce toxicity, heralding more personalized care.

via The Guardian|

#breast-cancer #chemotherapy #genomics