#gene-variants

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Medicine
fromNature
2 days ago

Revealed: how male and female brain cells differ in gene activity

Researchers found significant gene activity differences between male and female brains, which may explain varying risks for certain neurological conditions.
fromwww.nature.com
3 days ago

Editorial Expression of Concern: Creation of human tumour cells with defined genetic elements

Concerns were raised regarding a potential duplication of two bands in Fig. 1b. Due to the age of the article, the raw data were not available.
Artificial intelligence
fromFast Company
4 days ago

AI is rewriting the rules of biological experiments, but safety regulations aren't keeping up

AI is autonomously designing and running biological experiments, outpacing current governance systems meant to regulate these capabilities.
Medicine
fromThe Atlantic
1 day ago

The DNA Fix for Aging

Michael Prescott diagnosed himself with Werner syndrome after suffering multiple organ failures and rapid aging.
#sex-determination
#genetics
Health
fromThe Washington Post
1 week ago

One way to live longer: Win the genetic lottery

Genetic factors account for about 50% of human lifespan, significantly higher than the previously estimated 20%.
Medicine
fromNature
3 days ago

Landmark ancient-genome study shows surprise acceleration of human evolution

Human evolution has accelerated over the past 10,000 years, with significant gene variants identified in ancient populations from western Eurasia.
#genomics
fromwww.cbc.ca
2 months ago
Public health

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

fromwww.cbc.ca
2 months ago
Public health

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

#gene-editing
Medicine
fromArs Technica
1 week ago

Clinical trial shows gene editing works for -Thalassaemia, too

An improved gene editing system reactivates a fetal hemoglobin gene to treat β-Thalassaemia, building on CRISPR's success with sickle-cell anemia.
Medicine
fromNature
1 week ago

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders - Nature

De novo variants in RNU4-2 cause ReNU syndrome, a neurodevelopmental disorder characterized by developmental delays and other severe symptoms.
fromNature
3 weeks ago

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

Asexual reproduction is ultimately unsustainable for mice, and potentially other mammals, too. The clones looked normal and lived as long as normal mice. But large mutations - including the loss of an entire chromosome - accumulated in the cloned lineage at an unusually high rate.
OMG science
Science
fromNature
3 weeks ago

Zombieland: Genome transplant brings 'dead' bacteria back to life

Researchers have revived 'dead' bacterial cells by replacing their DNA with a working genome from another species, advancing genome engineering.
Medicine
fromFast Company
1 week ago

AI is coming for superbugs

AI can significantly enhance antibiotic discovery, addressing the urgent global health crisis of antibiotic resistance.
Science
fromNature
1 month 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.
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.
Science
fromThe Washington Post
1 month ago

Neanderthal males and human females had babies together, ancient DNA reveals

Neanderthal-human interbreeding consistently followed a pattern of Neanderthal males with human females across 200,000 years, suggesting possible mate preferences or social behaviors in ancient populations.
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.
fromNews Center
2 months 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
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.
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.
fromIrish Independent
2 months 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
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
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.
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.
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.
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.
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.
OMG science
fromNature
2 months 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.
Medicine
fromThe Atlantic
2 months 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.
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.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.
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
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
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.
Medicine
fromNature
2 months ago

How DeepMind's genome AI could help solve rare disease mysteries

AlphaGenome uses AI to predict effects of non-coding DNA mutations, helping interpret previously triaged variants and aiding diagnosis of undiagnosed rare diseases.
Science
fromSilicon Canals
2 months 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.
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.
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
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
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
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
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.
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