Human Genome Reboot Better Reflects Global Population
WASHINGTON, May 10 (Reuters) – Scientists on Wednesday unveiled a new accounting of the human genome that improves on its predecessor by including a rich diversity of people to better reflect the global population – a boost to ongoing efforts to identify genetic underpinnings of diseases and new ways to treat them.
This “pangenome” achievement was announced two decades after the first sequencing of the human genome, a feat that transformed biomedical research by giving scientists a reference map to analyze DNA for clues about disease-related mutations.
The new genome rundown may help clarify the contribution of genetic variation to health and disease, improve genetic testing, and guide drug discovery. It could be of particular value in understanding neurodevelopmental disorders such as schizophrenia, autism, macrocephaly, and microcephaly, as well as drug metabolism.
The work, led by the international Human Pangenome Reference Consortium of scientists funded by the U.S. government’s National Human Genome Research Institute (NHGRI), essentially was a reboot of the prior effort and solved a key deficiency – a failure to represent the genetic variations present among the world’s 8 billion people.
The previous work had significant gaps and was based largely on a single person’s DNA. The new work is a collection of nearly perfect genome assemblies for 47 people of diverse ancestries and an alignment of those individual genomes to show which parts match and which differ. Calling this a first draft, the researchers intend to increase the number of people reflected in the data to 350 by mid-2024.
“A pangenome is not just one reference genome, but a whole collection of diverse genomes. By comparing those genomes we can then build a map of not just one individual, but a whole population of variation,” said University of California, Santa Cruz genomicist Benedict Paten, co-leader of the consortium and senior author of the main research paper published in the journal Nature.
This collection comprised genomes of people including those of African, East Asian, South Asian, European, North American, South American, and Caribbean ancestry, though not yet Oceania.
“Bottom line – what we’re doing is retooling genomics to create a diverse, inclusive representation of human variation as the fundamental reference structure, and so mitigating bias. This is important if we want our research to benefit everyone equally,” Paten said.
A genome is an organism’s genetic blueprint – in this case a human – and contains the information needed for development and growth. But each person’s genome varies slightly – about 0.4% on average – from other people. These genetic differences can shed light on a person’s health, help diagnose disease, craft treatments and forecast medical outcomes.
“By building very high quality, almost complete references we’re getting a better picture for how some of the most complex regions of the genome vary. Until now, the composition of these fast-evolving regions has been largely invisible to us,” Paten said.
Researchers in 2003 unveiled what was billed as the complete sequence of the human genome, though about 8% of it had not been fully deciphered. That reference genome was a mosaic drawn from about 20 people, including 70% from one individual of mixed European and African ancestry. The first complete human genome, based on a single European individual, was published last year after scientists filled in the gaps.
Our species Homo sapiens arose in Africa roughly 300,000 years ago and later spread worldwide.
“Human ancestry is incredibly complex, and we’re all related to each other through our common history,” said Ira Hall, director of the Yale Center for Genomic Health and one of the research leaders. “And so by sampling broadly across the genetic tree of humanity, it benefits everybody. Even if some specific group isn’t explicitly included, it still is representing our common origins and provides common benefits.”
The cost of supporting the consortium will be about $40 million over five years, NHGRI said, less than the multibillion-dollar expenditure for the 2003 genome project thanks to technological advances.
Reporting by Will Dunham, Editing by Rosalba O’Brien
Heat transport in energy materials: Study clarifies fundamental microscopic mechanisms
The NOMAD Laboratory researchers have recently shed light on fundamental microscopic mechanisms that can help with tailoring materials for heat insulation. This development advances the ongoing efforts to enhance energy efficiency and sustainability.
The role of heat transport is crucial in various scientific and industrial applications, such as catalysis, turbine technologies, and thermoelectric heat converters that convert waste heat into electricity.
Particularly in the context of energy conservation and the development of sustainable technologies, materials with high thermal insulation capabilities are of utmost importance. These materials make it possible to retain and utilize heat that would otherwise go to waste. Therefore, improving the design of highly insulating materials is a key research objective in enabling more energy-efficient applications.
However, designing strongly heat insulators is far from trivial, despite the fact that the underlying fundamental physical laws have been known for nearly a century. At a microscopic level, heat transport in semiconductors and insulators was understood in terms of the collective oscillation of the atoms around their equilibrium positions in the crystal lattice. These oscillations, called “phonons” in the field, involve a huge number of atoms in solid materials and hence cover large, almost macroscopic length- and time-scales.
In a recent joined publication in Physical Review B and Physical Review Letters, researchers from the NOMAD Laboratory at the Fritz Haber Institute have advanced the computational possibilities to compute thermal conductivities without experimental input at unprecedented accuracy. They demonstrated that for strong heat insulators the above-mentioned phonon picture is not appropriate.
Using large-scale calculations on supercomputers at of the Max Planck Society, the North-German Supercomputing Alliance, and the Jülich Supercomputing Centre, they scanned over 465 crystalline materials, for which the thermal conductivity had not been measured yet. Besides finding 28 strong thermal insulators, six of which feature an ultra-low thermal conductivity comparable to wood, this study shed light on a hitherto typically overseen mechanism that allows one to systematically lower the thermal conductivity.
“We observed the temporary formation of defect structures that massively influences the atomic motion for an extremely short period of time,” says Dr. Florian Knoop (now Linköping University), first author of both publications.
“Such effects are typically neglected in thermal-conductivity simulations, since these defects are so short-lived and so microscopically localized compared to typical heat-transport scales, that they are assumed to be irrelevant. However, the performed calculations showed that they trigger lower thermal conductivities,” adds Dr. Christian Carbogno, a senior author of the studies.
These insights may offer new opportunities to fine-tune and design thermal insulators on a nanoscale level through defect engineering, potentially contributing to advances in energy-efficient technology.
Florian Knoop et al, Anharmonicity in Thermal Insulators: An Analysis from First Principles, Physical Review Letters (2023). DOI: 10.1103/PhysRevLett.130.236301
Florian Knoop et al, Ab initio Green-Kubo simulations of heat transport in solids: Method and implementation, Physical Review B (2023). DOI: 10.1103/PhysRevB.107.224304
Max Planck Society
Heat transport in energy materials: Study clarifies fundamental microscopic mechanisms (2023, June 9)
retrieved 10 June 2023
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no
part may be reproduced without the written permission. The content is provided for information purposes only.
A "supervolcano" in Italy last erupted in 1538. Experts warn it's "nearly to the breaking point" again. – CBS News
A long-dormant “supervolcano” in southern Italy is inching closer to a possible eruption — nearly six centuries after it last erupted, according to European researchers.
The Campi Flegrei volcano, which is located near the city of Naples, has become weaker over time and as a result is more prone to rupturing, according to a peer-reviewed study conducted by researchers from England’s University College London and Italy’s National Research Institute for Geophysics and Volcanology.
The study used a model of volcano fracturing to interpret the patterns of earthquakes and ground uplift. There have been tens of thousands of earthquakes around the volcano, and the town of Pozzuoli, which rests on top of Campi Flegrei, has been lifted by about 13 feet as a result of them. The quakes and rising earth have stretched parts of the volcano “nearly to the breaking point,” according to a news release about the study, and the ground seems to be breaking, rather than bending.
The earthquakes are caused by the movement of fluids beneath the surface, the news release said. It’s not clear what those fluids are, but researchers said they may be molten rock, magma or natural volcanic gas.
The earthquakes have taken place during the volcano’s active periods. While it last erupted in 1538, it has been “restless” for decades, with spikes of unrest occurring in the 1950s, 1970s and 1980s. There has been “a slower phase of unrest” in the past 10 years, researchers said, but 600 earthquakes were recorded in April, setting a new monthly record.
According to LiveScience, Campi Flegrei is often referred to as a “supervolcano,” which can produce eruptions reaching a category 8 — the highest level on the Volcano Explosivity Index. However, Campi Flegrei’s biggest-ever eruption technically ranked as a category 7, which is still considered a very large and disastrous eruption, LiveScience reported.
While Campi Flegrei — which means “burning fields” — may be closer to rupture, there is no guarantee that this will actually result in an eruption, the study concluded.
“The rupture may open a crack through the crust, but the magma still needs to be pushing up at the right location for an eruption to occur,” said Professor Christopher Kilburn, who studies earth sciences at University College London and was the lead author of the study.
Kilburn said that this is the first time the model has been applied to a volcano in real-time. Since first using the model in 2017, the volcano has behaved as predicted, Kilburn said, so researchers plan to expand the use of the model to look at other volcanoes that reawakened after long periods of dormancy. The goal is to establish more reliable criteria to decide if an eruption is likely and establish a model that can be applied to multiple volcanoes.
“The study is the first of its kind to forecast rupture at an active volcano. It marks a step change in our goal to improve forecasts of eruptions worldwide,” Kilburn said.
Mountains 3 To 4 Times Higher Than Mount Everest Found Deep Inside Earth: Scientists – NDTV
The deep Earth contains mountains with peaks three to four times higher than Mount Everest, scientists have found. According to the BBC, a team of experts from Arizona State University used seismology centres in Antarctica and found these astonishingly huge mountains in the boundary between the core and mantle, around 2,900 kilometres deep inside our planet.
“The mountain-like structures they revealed are utterly mysterious,” the BBC report read. Scientists explained that these underground mountain ranges – dubbed ultra-low velocity zones or ULVZs – had managed to escape the experts’ gaze all these years until earthquakes and atomic explosions generated enough seismic data to be spotted by them.
Scientists believe that these huge mountain ranges are over 24 miles (38 kilometres) in height, while Mount Everest is around 5.5 miles (8.8 kilometres) from the surface. “Analysing 1000’s of seismic recordings from Antarctica, our high-definition imaging method found thin anomalous zones of material at the CMB [core-mantle boundary] everywhere we probed,” Arizona State University geophysicist Edward Garnero said in a statement.
“The material’s thickness varies from a few kilometres to 10’s of kilometres. This suggests we are seeing mountains on the core, in some places up to 5 times taller than Mt. Everest,” he added.
Also Read | Stephen Hawking’s Famous Theory Could Mean That Entire Universe Is Doomed To Evaporate: Study
Further, as per the report, experts explained the possible reason behind the formation of these mysterious mountain peaks. They believe that these ancient formations were created when oceanic crusts were formed into Earth’s interior. They also argue that it might have begun with tectonic plates slipping down into our planet’s mantle and sinking to the core-mantle boundary. These then slowly spread out to form an assortment of structures, leaving a trail of both mountains and blobs. This would, therefore, mean that these mysterious mountains are made of ancient oceanic crust, which is a combination of basalt rock and sediments from the ocean floor.
Now, with this recent discovery, scientists are seeking to argue that these underground mountains may play a critical role in how heat escapes the Earth’s core. “Seismic investigations, such as ours, provide the highest resolution imaging of the interior structure of our planet, and we are finding that this structure is vastly more complicated than once thought,” study co-author and University of Alabama geoscientist Samantha Hansen said in a statement.
“Our research provides important connections between shallow and deep Earth structure and the overall processes driving our planet,” she added.
Sudburians invited to provide thoughts on city plan to attract investment – The Sudbury Star
World Economy Latest: Weak Trade Shows China’s Economy Is Struggling – Bloomberg
Mortgage Transfers Pick Up as a Way to Beat Rising Rates
Silver investment demand jumped 12% in 2019
Iran anticipates renewed protests amid social media shutdown
Search for life on Mars accelerates as new bodies of water found below planet’s surface
Economy15 hours ago
People in China are so worried about the economy they’re asking for divine intervention
News14 hours ago
No Pleasing Everyone
Media15 hours ago
How to Grow Your Business With Social Media
Economy16 hours ago
Are we in a recession right now? What economists have to say
News14 hours ago
Are Canadian wildfires under control? Here’s what to know.
News13 hours ago
Global help arrives as Quebec fights ‘historic’ fires
Media19 hours ago
Judge in FTX bankruptcy rejects media challenge, says customer names can remain secret
News19 hours ago
Air Canada issues: Passengers to be compensated