#genetic-variants

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#genetics
Data science
fromMedium
3 days ago

In-Silico Perturbation Meets Single-Cell Foundation Models: From Zero-Shot Potential to Fine-Tuned...

In-silico perturbation simulates cellular state changes, but biological trustworthiness remains a challenge despite advancements in single-cell foundation models.
#genomics
fromNature
4 days ago
Science

The 1000 Chinese Pangenome empowers medical and population genetics - Nature

fromwww.cbc.ca
2 months ago
Public health

New project aims to map genomes of Black Canadians, provide better health outcomes | CBC News

fromNature
4 days ago
Science

The 1000 Chinese Pangenome empowers medical and population genetics - Nature

fromwww.cbc.ca
2 months ago
Public health

New project aims to map genomes of Black Canadians, provide better health outcomes | CBC News

OMG science
fromHarvard Gazette
3 days ago

Anthropologist traces split between Homo sapiens and Neanderthals - Harvard Gazette

The transition from multiple human forms to Homo sapiens dominance involved interactions and interbreeding with Neanderthals, not a clear-cut victory.
#crispr
#cloning
fromFuturism
4 days ago
Science

A Startup Has Been Quietly Pitching Cloned Human Bodies to Transfer Your Brain Into

fromNature
1 week ago
OMG science

Can a mouse be cloned indefinitely? Decades-long experiment has answers

Science
fromFuturism
4 days ago

A Startup Has Been Quietly Pitching Cloned Human Bodies to Transfer Your Brain Into

Cloning efforts have evolved from animals to controversial human embryo models, with ambitions for brainless human clones for organ transplants.
OMG science
fromNature
1 week ago

Can a mouse be cloned indefinitely? Decades-long experiment has answers

Asexual reproduction in mice is unsustainable due to accumulating mutations, limiting the potential for successful cloning.
Artificial intelligence
fromFortune
2 weeks ago

Could data from 100 million species help cure disease? One startup is betting on it | Fortune

Basecamp Research launches the Trillion Gene Atlas to map genetic diversity across 100 million species, aiming to expand biological knowledge 100-fold through AI-powered genomic data collection.
OMG science
fromNature
1 week ago

How DNA in dirt is shaking up the study of human origins

Ancient DNA can be recovered from sediments, revolutionizing the study of extinct species and the history of ecosystems.
Science
fromNature
2 weeks ago

Synthetic circuits for cell ratio control - Nature

Synthetic biology enables artificial cell differentiation and division of labor by engineering genetic and epigenetic circuits that mimic natural stem cell asymmetric division processes.
Medicine
fromNature
1 month ago

Identical twins on trial: can DNA testing tell them apart?

Identical twins share identical DNA, making standard forensic DNA testing unable to distinguish which twin committed a crime, though whole-genome sequencing can identify rare post-birth mutations to differentiate them.
Silicon Valley
fromKqed
1 month ago

How South San Francisco Became the Birthplace of Biotechnology | KQED

South San Francisco transformed from an industrial meatpacking and steel manufacturing hub into the world's biotechnology capital, hosting over 250 biotech companies including Genentech.
Mental health
fromPsychology Today
1 month ago

A Genetic Map Redrawing the Borders of Mental Illness

Five broad genetic families underlie 14 psychiatric disorders, suggesting diagnostic categories reflect shared biological landscapes rather than distinct diseases.
Left-wing politics
fromTruthout
1 month ago

Reproductive Tech That Promises Smart Babies Is Peddling Soft Eugenics

Reproductive tech companies now offer embryo genetic screening for intelligence and disease, raising concerns about eugenics, disability discrimination, and wealth-based genetic enhancement.
fromMail Online
3 weeks ago

How your FINGER LENGTH could reveal your sexuality

Their results revealed that women with lower 2D:4D are more likely to be lesbian. Meanwhile, men with higher 2D:4D are more likely to be gay. 'Bisexual women are more similar to heterosexual women in digit ratios, but there may be further nuance,' the researchers explained.
Science
fromwww.theguardian.com
1 month ago

I clicked on a button and everything changed': how a DNA test turned my life upside-down

It was another detail that the rest of the family apparently knew but had never told me; they thought I already knew. The biology mattered less to me than the secret. Dad had been adopted, it turned out. A classic affliction of the 1950s, in which young, unmarried couples were forced to give away their newborn babies.
Books
#neanderthal-human-interbreeding
Science
fromNature
1 month ago

Daily briefing: How DNA testing can tell identical twins apart

Advanced forensic techniques including whole-genome sequencing and epigenetic analysis can differentiate between identical twins in criminal investigations, while GLP-1 drugs show potential in reducing addiction across multiple substances, and researchers have successfully synthesized hexagonal diamond.
OMG science
fromNature
1 month ago

Daily briefing: This Utah family line might be evidence of 'selfish genes' in humans

Researchers identified a Utah family with seven generations showing twice as many boys as girls, providing first clear evidence of sex-ratio distorting genes in humans.
Medicine
fromenglish.elpais.com
1 month ago

The very long road from a cancer cure' in mice to one in humans

Promising mouse cancer cures often fail to become safe, effective human drugs; premature media claims can create false patient expectations and hinder responsible research progress.
Science
fromArs Technica
1 month ago

Large genome model: Open source AI trained on trillions of bases

Evo 2, an AI system trained on trillions of base pairs from all life domains, can identify genes, regulatory sequences, and splice sites in complex genomes including humans.
fromwww.nature.com
1 month ago

Genetically encoded assembly recorder temporally resolves cellular history

GEMINI leverages a computationally designed protein assembly as an intracellular memory device to record the history of individual cells. GEMINI grows predictably within live cells, capturing cellular events as tree-ring-like fluorescent patterns for imaging-based retrospective readout. Absolute chronological information of activity histories is attainable with hour-level accuracy.
fromNews Center
1 month ago

AI Model May Improve RNA Sequencing Research - News Center

Scientists in the laboratory of Rendong Yang, PhD, associate professor of Urology, have developed a new large language model that can interpret transcriptomic data in cancer cell lines more accurately than conventional approaches, as detailed in a recent study published in Nature Communications. Long-read RNA sequencing technologies have transformed transcriptomics research by detecting complex RNA splicing and gene fusion events that have often been missed by conventional short-read RNA-sequencing methods.
Cancer
Philosophy
fromPsychology Today
2 months ago

Can Accepting Our Biological Heritage Improve the World?

Biological imperative centers on protecting, promoting, and propagating genetic code, shaping behavior, sex-specific roles, physiology, and intergenerational wellbeing.
Medicine
fromThe Atlantic
1 month ago

Their Mutated Genes Were Supposed to Be Harmless

People who carry single-gene mutations for disorders like thalassemia can experience real health effects, including lethargy and fainting, despite being labeled asymptomatic.
Public health
fromNature
2 months ago

Nationwide genetic screening proves effective at catching disease risk early

Early genetic screening in young adults can identify hereditary cancer and familial hypercholesterolaemia risk before symptoms, but generalizability and cost-benefit require evaluation.
fromNature
1 month ago

Is a 'selfish gene' making a Utah family have twice as many boys as girls?

Such sex 'distorters' have been discovered - and studied in great depth - in laboratory animals such as mice and flies, in which their effects can be detected through selective breeding. 'If you look, more often than not, you find them,' says Nitin Phadnis, an evolutionary geneticist at the University of Utah in Salt Lake City, who co-led the study.
Science
Science
fromInsideHook
1 month ago

Scientists Question the Conventional Y Chromosome Wisdom

Researchers discovered evidence that certain genetic elements can skew sex ratios toward male offspring beyond the expected 50/50 split, with one family showing a 2:1 male-to-female ratio across generations.
Philosophy
fromAeon
2 months ago

Groundbreaking visuals capture how our bodies repair damaged DNA | Aeon Videos

Drew Berry creates striking biomedical animations that visualize microscopic biological processes like DNA repair, revealing intricate evolution-shaped cellular mechanisms.
Mental health
fromPsychology Today
2 months ago

Global Study Identifies Genetic Links to Depression

Genetic analyses have identified hundreds of variants linked to depression and revealed existing non-psychiatric drugs as potential treatment candidates.
fromIrish Independent
1 month ago

Risk of carrying the 'Celtic curse' gene varies across Ireland, new study finds

Targeting genetic screening for the condition to priority areas could help identify at-risk individuals earlier and avoid future health complications, experts say. Haemochromatosis symptoms can evolve over decades as high iron levels in the body cause damage to organs. Early diagnosis and treatment - such as regular blood donation to reduce iron levels - is key to prevent liver damage, liver cancer and arthritis.
Public health
Science
fromwww.scientificamerican.com
1 month ago

Sex between Neandertals and anatomically modern humans tended to follow a specific pattern

Neandertal-human interbreeding was primarily between male Neandertals and female humans, evidenced by the absence of Neandertal DNA on modern human X chromosomes.
Science
fromNature
1 month ago

Neanderthal dad, human mum: study reveals ancient procreation pattern

Female Homo sapiens and male Neanderthals mated more frequently than the reverse pairing, shaping human genetic ancestry patterns revealed through analysis of female Neanderthal specimens.
Mental health
fromPsychology Today
2 months ago

Very Different Psychiatric Diagnoses Share Common Genes

Alcohol, cannabis, opioid, and nicotine use disorders share substantial genetic liability and cluster together as a single brain disorder, supporting a unified addiction-liability.
OMG science
fromNature
1 month ago

Regulatory grammar in human promoters uncovered by MPRA-based deep learning - Nature

Massively parallel reporter assays provide cell-type-specific causal training data enabling more direct inference of DNA sequence effects on promoter activity than epigenomic maps.
#alphagenome
fromNature
1 month ago

AI tools can design genomes. Will they upend how life evolves?

Biology is undergoing a transformation. After centuries of studying life as it evolves naturally, researchers are now using a combination of computation and genome engineering to intervene, generating new proteins and even whole bacteria from scratch. The use of artificial-intelligence tools to design biological components, an approach known as generative biology, is set to turbocharge this area of research. Just last year, scientists used AI-assisted design to produce artificial genes that can be expressed in mammalian cells.
Science
Medicine
fromThe Washington Post
1 month ago

David Liu unlocks the power of gene editing to treat rare genetic diseases

Base and prime gene-editing technologies can precisely correct genetic mutations, enabling personalized therapies that can cure life-threatening inherited diseases.
fromArs Technica
1 month ago

Have we leapt into commercial genetic testing without understanding it?

Martschenko's argument is largely that genetic research and data have almost always been used thus far as a justification to further entrench extant social inequalities. But we know the solutions to many of the injustices in our world-trying to lift people out of poverty, for example-and we certainly don't need more genetic research to implement them. Trejo's point is largely that more information is generally better than less.
Science
Science
fromNature
2 months ago

Construction of complex and diverse DNA sequences using DNA three-way junctions - Nature

DNA writing remains limited by short oligo synthesis and two-way junction assembly methods, hindering affordable, scalable construction of large, complex synthetic DNA.
Science
fromwww.scientificamerican.com
2 months ago

How long you live may depend much more on your genes than scientists thought

Heritability of human lifespan roughly doubles to about 50% when extrinsic mortality is removed, showing a stronger genetic influence on intrinsic aging.
Science
fromwww.nature.com
2 months ago

Scalable and multiplexed recorders of gene regulation dynamics across weeks

CytoTape enables multiplexed, genetically encoded, spatiotemporally scalable recording of gene regulation dynamics in single cells for up to three weeks with minute-scale resolution.
Science
fromwww.scientificamerican.com
2 months ago

Google DeepMind unleashes new AI to investigate DNA's dark matter'

AlphaGenome predicts functional effects of mutations in long noncoding DNA sequences up to one million base pairs, helping interpret genomic variants for disease research.
Science
fromSilicon Canals
1 month ago

This gene mutation on chromosome 11 is why cilantro tastes like dish soap to millions of people - Silicon Canals

Genetic variation in the OR6A2 receptor causes cilantro to taste like soap to some people by detecting aldehyde compounds present in the herb.
fromNature
2 months ago

Daily briefing: The human cells in our bodies that aren't genetically ours

A virus that sickens marine mammals has been detected in Arctic waters for the first time. Scientists used drones armed with petri dishes to collect samples of blow - the air and mucus whales expel from their blowholes - from whales in northern Norway. The team identified cetacean morbillivirus in samples from humpback whales ( Megaptera novaeangliae) and one sperm whale ( Physeter macrocephalus), though the humpbacks showed no symptoms of disease.
Science
Science
fromWIRED
2 months ago

He Went to Prison for Gene-Editing Babies. Now He's Planning to Do It Again

He Jiankui created the first gene-edited babies, was jailed and banned, and now seeks to resume controversial genetic research despite widespread germline-editing prohibitions.
Science
fromMail Online
2 months ago

Scientists use AI to create a virus never seen before

Scientists used AI and gene-assembly tools to create Evo-Φ2147, a novel 11-gene virus designed to kill pathogenic E. coli.
Science
fromNature
2 months ago

Developmental convergence and divergence in human stem cell models of autism - Nature

Distinct rare mutations and common genetic variation jointly shape ASD risk, yet convergent molecular pathology and early fetal neurodevelopmental mechanisms can be studied using stem-cell models.
Science
fromNature
2 months ago

An expanded registry of candidate cis-regulatory elements - Nature

The cCRE registry expanded to 2.37 million human and 967,000 mouse elements and integrates functional characterization for over 97% of human cCREs.
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