Tag

Genomics

All articles tagged with #genomics

biology4 days ago•15 min saved

Ecotypes as Genetic Time Capsules: How Local Adaptations Persist Within a Single Species

Evolutionary biologists show that ecotypes—local, adaptively distinct forms within a single species—act as a genetic memory by preserving alternative gene variants across the genome. Chromosomal inversions can lock these adaptive gene blocks into place, enabling rapid shifts between ecotypes (as in marine snails, sticklebacks, and Timema) without new species forming. Standing genetic variation provides the raw material for redeploying these traits when environments change, reshaping our view of speciation and evolution.

via Quanta Magazine|

#biology #ecotypes #evolution

genomics5 days ago•56 min saved

Massive GWAS maps 249 circulating metabolites to thousands of genetic signals in 619,372 individuals

A large GWAS meta-analysis of 249 circulating metabolic traits in the Estonian Biobank and UK Biobank (up to 619,372 individuals) identifies 88,127 locus–trait associations across 8,398 loci. Using fine mapping, phenome‑wide colocalization, and cis‑Mendelian randomization, the study highlights the value of low‑frequency variants (MAF 0.1–1%) in explaining heritability and points to causal links between metabolic traits and diseases such as CAD and T2D. Notably, 19.4% of confidently fine‑mapped variants are low‑frequency missense or splice variants, enriching interpretability. The work also uncovers three lactate‑related loci (GP6, GRK5, ZFPM2) where higher plasma lactate associates with pulmonary embolism risk, potentially reflecting platelet activation rather than a direct causal effect. Overall, integrating low‑frequency variation improves mapping precision and biological insight into metabolism and disease.

via Nature|

#colocalization #genomics #gwas

science20 days ago•5 min saved

Dark proteins rebranded as peptideins to map hidden biology

Thousands of so-called dark proteins in the human genome have been reclassified as peptideins and added to major databases, but only 15 of 7,264 suspected sequences have robust experimental support; peptideins are short, often lack evolutionary relatives, and may be cellular by-products with unclear functions, though some are linked to diseases like childhood cancers. The effort aims to spur research into their roles and significance in biology.

via Nature|

#dark-proteins #genomics #peptideins

health21 days ago•3 min saved

Africa launches continental genomics advisory group to guide public-health innovation

Africa CDC unveiled the African Strategic Advisory Group on Genomics (ASAG), an eight-member, independent panel tasked with providing strategic guidance on governance, standards, ethics, data governance, and capacity building for genomics across Africa. The group aims to democratize access to genomics, strengthen outbreak surveillance and precision public health, encourage local manufacturing of countermeasures, and ensure African leadership and equitable benefit-sharing. ASAG’s chair is Prof. Christian Happi and co-chair Prof. Ghada El-Kamah, with Africa CDC retaining decision-making and prioritization while ASAG offers non-binding recommendations to advance Africa Health Security and Sovereignty.

via Africa CDC|

#africa-cdc #africa-health-security-and-sovereignty #capacity-building

science21 days ago•8 min saved

Galápagos Daisies Show Parallel Evolution Driven by Different Genes

A global study of the Galápagos Scalesia daisies reveals that lobed leaves evolved repeatedly through different genetic pathways, illustrating parallel evolution and suggesting ongoing speciation among island populations; the findings also imply conservation units for isolated populations and highlight that evolution remains an active process on Darwin’s islands.

via SciTechDaily|

#evolution #galapagos #genomics

science25 days ago•8 min saved

J. Craig Venter: The genome renegade who reshaped biotech

STAT memorializes J. Craig Venter, detailing how his audacious push to map and rewrite genomes—racing the Human Genome Project with Celera, sequencing microbes with Ham Smith, and pioneering synthetic biology—transformed biomedical science, while also provoking debate over patents, profit, and access in the biotech era.

via statnews.com|

#biotechnology #celera-genomics #genomics

science26 days ago•7 min saved

Ancient Genome Tracks Rapid Turn in Human Evolution

A massive ancient-DNA study analyzing data from more than 10,000 ancient individuals, plus thousands of published and modern genomes, finds that directional natural selection was more active and occurred more recently than previously believed. The analysis identifies 479 gene variants that rose or fell in West Eurasia over the last 10,000 years, with selection intensifying after farming. Although such selection explains only about 2% of genetic changes, many variants tie to traits seen today—like light skin, immune responses, and disease risks—and some gene groups influenced polygenic traits. Caution is urged in linking ancient variants to modern traits, and results are not limited to West Eurasia. The researchers have made data and methods public to extend work to other populations and time periods, with implications for health, disease understanding, and potential gene-therapy considerations.

via SciTechDaily|

#ancient-dna #genomics #human-evolution

science1 month ago•96 min saved

Ancient DNA maps three waves of Indigenous American arrival and a ghost lineage

An international analysis of 128 Indigenous American genomes from across the Americas reveals three migration waves into South America: the earliest over 9,000 years ago, a second lineage around that period, and a previously unrecognized dispersal at least 1,300 years ago linked to Mesoamerica. Researchers also identify a faint Asian “ghost lineage” called Ypykuéra that contributed genes to Indigenous Americans and early Australasians, indicating a more complex peopling of the continents. Indigenous genomes are less diverse than those of other continents but harbor adaptive genes related to immune function, metabolism, and fertility, underscoring environmental pressures and the importance of including Indigenous communities in genomic studies.

via Live Science|

#ancient-dna #genomics #ghost-lineage

science1 month ago•2 min saved

NOAA Solves Golden Orb Mystery: Remnant of a Giant Deep-Sea Anemone

NOAA researchers solved the nearly three-year mystery of the “golden orb,” finding it is not an egg, sponge, or alien but a remnant of dead cells that attached to rock at the base of the giant deep-sea anemone Relicanthus daphneae. Initial DNA barcoding was inconclusive, but whole-genome sequencing confirmed animal DNA and a close match to Relicanthus daphneae, after the orb was collected during a 2023 Gulf of Alaska expedition and sent to the Smithsonian for study.

via USA Today|

#deep-sea #genomics #noaa

science1 month ago•31 min saved

AI Unmasks 40-Gene Shield Against Alzheimer’s Decline

AI analysis across normal and Alzheimer’s brains identified a precise 40-gene signature that predicts cognitive resilience despite full pathology, outperforming prior signatures. Mouse studies linked Chromogranin A (CgA) to protection against memory decline and tau tangles, with sex-specific effects, suggesting that therapies targeting CgA-centered pathways could boost cognitive resilience before symptoms appear rather than focusing on clearing plaques after damage.

via Yahoo|

#alzheimer-disease #artificial-intelligence #cognitive-resilience

neuroscience1 month ago•29 min saved

A genome-first view of how the human brain evolved

This Nature Neuroscience review outlines a 'genome-up' approach to decoding human brain evolution by leveraging thousands of genomes from mammals, non-human primates, ancient humans and modern humans to identify genomic regions under selection. It emphasizes integrating comparative experiments and functional dissection of human-evolved loci, and calls for expanding cohorts and applying diverse contexts to link genetic changes to cognitive and social traits across evolutionary timescales.

via Nature|

#ancient-dna #brain-evolution #genomics

science1 month ago•89 min saved

Genome reveals forest ancestry hidden in Africa’s savanna elephants, guiding conservation

A continent-wide genomic analysis of 232 African elephants (savanna Loxodonta africana and forest L. cyclotis) shows a deep species split with forest elephants more genetically diverse and historically larger effective population sizes, while savanna elephants display more inbreeding and higher genetic load. The study also uncovers widespread forest-into-savanna introgression, including recent hybrids at the DRC–Uganda and Garamba zones, plus trace forest ancestry across savanna populations in west-central Africa. Despite high within-species connectivity, human-driven habitat fragmentation has produced isolated peripheral populations with elevated runs of homozygosity, underscoring the need to maintain habitat connectivity and protected-area networks to preserve genetic diversity and potential fitness. These findings highlight gene flow as a key evolutionary force and provide genomic guidance for conservation of Africa’s keystone elephants.

via Nature|

#conservation #elephants #genomics

health1 month ago•44 min saved

Genomics-guided off-label cancer therapy shows benefit in defined subgroups (DRUP trial)

In the Drug Rediscovery Protocol (DRUP), 1,610 patients with advanced solid tumors were treated with 37 off-label drugs matched to actionable genomic alterations. Of 1,363 evaluable patients, the clinical benefit rate was 34.9% and the objective response rate was 15.7%, with median progression-free and overall survival of 3.4 months and 8.2 months, respectively; grade 3+ treatment-related adverse events occurred in 28.4%, leading to discontinuation in 9.4%. Exceptional responders (7.0%) appeared across molecular subgroups, and some results supported Dutch reimbursement. The authors emphasize meaningful benefit in defined molecular contexts despite overall modest activity, advocating structured, data-generating frameworks, earlier intervention, biomarker refinement, and international collaboration to guide safe use and potential label expansion.

via Nature|

#drup #genomics #health

science2 months ago•2 min saved

Sharks May Not Form a True Family, New Genomic Study Suggests

A Yale-led study analyzed whole genomes from 48 shark-relatives and found conflicting signals: some DNA segments point to all sharks sharing a common ancestor, while others suggest species like frilled and cow sharks are closer to rays, implying sharks may not constitute a natural, exclusive group. The researchers estimate sharks emerged around 300 million years ago, offering new insights into early jawed vertebrate evolution; the study is awaiting publication.

via BBC Science Focus Magazine|

#cartilaginous-fishes #evolution #genomics

science2 months ago•4 min saved

Genomic Split Reveals Tokara Leaf Warbler as a New Japanese Bird Species

Genome sequencing revealed the Tokara Leaf Warbler (Phylloscopus tokaraensis) as a distinct species from Ijima's Leaf Warbler, marking Japan's first new bird species identification since 1982. Despite near-identical appearance, differences in songs and genetics justified the split, highlighting conservation concerns for small-island populations.

via The Daily Galaxy|

#conservation #genomics #ijimas-leaf-warbler