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Scientists launch 'herculean' project creating atlas of human genome variants

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SEATTLE (April 1, 2021) - An international consortium of geneticists, biologists, clinicians, mathematicians, and other scientists is determined to take the study of the human genome to the next level - creating a comprehensive atlas of genetic variants to advance the understanding, diagnosis, and treatment of disease.
This Herculean undertaking is unprecedented, said Dr. Matthew Hurles, a geneticist at the Wellcome Sanger Institute in Cambridge, England. Indeed, the scientific community has an increasingly comprehensive catalog of functional DNA elements in the human genome, but that catalog remains incomplete. We have collectively characterized the functional impact of less than 1% of genetic variation in the 1 to 2 percent of our DNA. ....

Alanf Rubin , Leam Starita , Doug Fowler , Jamest Neal , Williamc Hahn , Matthew Hurles , Annal Gloyn , Fritz Roth , Davidj Adams , Broad Institute , Brotman Bata Institute For Precision Medicine , Brotman Baty Institute For Precision Medicine , Wellcome Sanger Institute In Cambridge , Stanford University School Of Medicine , University Of Washington Uw Medicine , Harvard Medical School , Wellcome Sanger Institute , University Of Toronto , Genome Sciences , University Of Washington , University Of Melbourne , University Of Washington School Medicine , Dana Farber Cancer Institute , Brotman Bata Institute , Precision Medicine , Variant Effects ,

Identifying cells to better understand healthy and diseased behavior

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IMAGE: Georgia Tech researchers use a graphical model framework to uncover a better way to identify cells and understand neural activities in the brain.
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Credit: Christopher Moore, Georgia Tech
In researching the causes and potential treatments for degenerative conditions such as Alzheimer s or Parkinson s disease, neuroscientists frequently struggle to accurately identify cells needed to understand brain activity that gives rise to behavior changes such as declining memory or impaired balance and tremors.
A multidisciplinary team of Georgia Institute of Technology neuroscience researchers, borrowing from existing tools such as graphical models, have uncovered a better way to identify cells and understand the mechanisms of the diseases, potentially leading to better understanding, diagnosis, and treatment. ....

United States , Georgia Institute Of Technology , Yueyi Li , Dhavals Patel , Yun Zhang , Shivesh Chaudhary , Brain Science At Harvard University , Georgia Tech School Of Chemical , Department Of Organismic , National Institutes Of Health , National Science Foundation , Georgia Institute , National Institutes , National Science , Love Family Professor , Biomolecular Engineering , Georgia Tech , Cell Relationships , Evolutionary Biology , Brain Science , Sol Ah Lee , Model Framework , Automated Annotation , Cell Identities , Dense Cellular Images , Cell Biology ,

Global warming helps invasive species flourish - study models likely combined effects on ecosystems

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Increased global temperatures help invasive species establish themselves in ecosystems, new research led by a Swansea University bioscientist has shown.
The study, published by the Royal Society, gives an insight into the probable combined effects of species invasions, which are becoming more common, and global warming.
Climate warming and biological invasions result in the loss of species. They also alter the structure of ecosystems and the ways in which species interact.
While there is already extensive research on how climate change and invasions affect species and ecosystems, we know surprisingly little about their combined effect, acting together in synergy. ....

United Kingdom , Kevin Sullivan , Miguel Lurgi , Research Excellence Framework , Royal Society , Centre National , Linstitut National De La Recherche Agronomique , Proceedings Of The Royal Society , College Of Science , Guardian University , Times Higher Education World University , Swansea University , Recherche Scientifique , Teaching Excellence Framework , Guardian University Guide , Excellence Framework , Times Higher Education , Climate Science , Ecology Environment , Algorithms Models , Systems Chaos Pattern Formation Complexity , Climate Change , ஒன்றுபட்டது கிஂக்டம் , கெவின் சல்லிவன் , மிகுவல் லுர்கி , ஆராய்ச்சி சிறப்பானது கட்டமைப்பு ,

The trouble of being tall

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IMAGE: Giraffes are in general very alert and exploit their height advantage to scan the horizon using their excellent eyesight
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Credit: Mogens Trolle
The giraffe is a truly puzzling animal. With its exceptional anatomy and suite of evolutionary adaptations, the giraffe is an outstanding case of animal evolution and physiology. Now, an international team of researchers from the University of Copenhagen and Northwestern Polytechnical University in China have produced a high-quality genome from the giraffe and investigated which genes are likely to be responsible for its unique biological features.
The extraordinary stature of the giraffe has led to a long list of physiological co-adaptations. The blood pressure of the giraffe, for instance, is twice as high as in humans and most other mammals to allow a steady blood supply to the lofty head. How does the giraffe avoid the usual side effects of high blood pressure, such as severe dam ....

Rasmus Heller , Qiang Qiu , Northwestern Polytechnical University , University Of Copenhagen , Department Of Biology , Cell Biology , Ecology Environment , Population Biology , Zoology Veterinary Science , ரஸ்முச் ஹெல்லர் , கியாங் கீயூ , வடமேற்கு போள்யிட்டேச்ணிகள் பல்கலைக்கழகம் , பல்கலைக்கழகம் ஆஃப் கோபெந்ஹேகந் , துறை ஆஃப் உயிரியல் , செல் உயிரியல் , சூழலியல் சூழல் , பாப்யுலேஶந் உயிரியல் , ஸுவாலஜீ கால்நடை அறிவியல் , உயிர் தகவலியல் ,

A deep dive into cells' RNA reality

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IMAGE: The researchers compared the BOLORAMIS method with single-molecule FISH (smFISH) analysis, a common standard for RNA localization studies, by tracing the location of a long non-coding RNA molecule known as.
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Credit: Wyss Institute at Harvard University
(BOSTON) ¬ Human cells typically transcribe half of their roughly 20,000 genes into RNA molecules at any given time. Just like with proteins, the function of those RNA species not only relies on their abundance but also their precise localization within the 3D space of each cell. Many RNA molecules convey gene information from the cell s nucleus to the protein-synthesizing machinery distributed throughout the cytoplasm (messenger RNAs or mRNAs), others are components of that machinery itself, while still different ones regulate genes and their expression, or have functions that remain to be discovered. Importantly, many diseases including cancer and neurological diseases have sign ....

Boston University , United States , University Of Massachusetts Medical School , Massachusetts Institute Of Technology , Dana Farber Cancer Institute , Tufts University , Spaulding Rehabilitation Hospital , Bruce Yankner , Daniel Goodwin , Jenny Tam , Kunal Jindal , Valerie Willocq , Eswar Iyer , Songlei Liu , Je Hyuk Lee , Anubhav Sinha , Thomas Ferrante , Conor Camplisson , Donald Ingber , Benjamin Boettner , Katharina Meyer , Sukanya Punthambaker , Lauren Mifflin , Richie Kohman , Anne Cheng , Edward Boyden ,