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English dialects make themselves heard in genes

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English dialects make themselves heard inĀ genes

Conditions in rural Great Britain around the turn of the 20th century offer a case study for cultural evolution researchers.
Heritage Images/Hulton Archive via Getty Images

Yakov Pichkar, Vanderbilt University and Nicole Creanza, Vanderbilt University

If you need to hit a nail, what tool do you ask for? If you say ā€œhammer,ā€ do you pronounce the ā€œrā€? Do you drop the ā€œhā€?

Different people pronounce the same English words in different ways. People learn which words to use and how to pronounce them as they're learning to with , friends and others in their community, so geographic patterns in these pronunciations can persist over time.

In England, pairs of words that mean similar things, like ā€œsightā€ and ā€œvisionā€ or ā€œyesā€ and ā€œaye,ā€ can reveal a rich history of language that is intertwined with the history of the place itself. Such words have their origins in migrations and conquests that took place during the Middle Ages. New words would sometimes coexist and sometimes displace one another.

Cultural evolution researchers like us know that it's not just mountain ranges or oceans that can be barriers to interaction. Different people can share their technology, cuisines and ideas, but some tend to interact more often with those who share cultural similarities, a behavior called homophily.

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This can be seen most clearly when cultural traditions people to marry people from the same community. Populations that tend to marry within their group because of social or economic forces, religious traditions and social stratification, have smaller gene pools, leading them to be more genetically similar to one another.

In addition to groups with distinctive marital practices, researchers have found relationships between genes and culture when studying groups that are from different ethnicities or different regions of the world. These similarities between genes and culture don't imply that certain genetic variants are exclusive to these groups, or that genetics causes certain cultures to arise. Rather, the same people might be more likely to share genetics and language because of a common history, especially because of significant geographic or social barriers between groups.

Can smaller things, like the different dialects between neighboring villages, shape the genetic landscape of populations? In our new study, we combined genetic and linguistic data from Great Britain to study the effects of culture on genetics at smaller geographic scales than generally studied.

We examined this relationship between cultural and genetic variation across Great Britain. In places where people move often, the small correlations between language and genes can be lost because of how rapidly they change. Since Great Britain is an island, few people entered its rural population between the times of the Norman conquest in 1066 and the end of the 19th century, making it ideal for our analysis.

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two women and three children in 1956 collect water from a tub against a stone wall of a house
In the middle of the 20th century, interviewers recorded the ways rural people spoke.
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Combining two sets of data

Ideally, we could use a unified data set capturing information about the genetics and dialects of people living in a region. Unfortunately, no such data exists. Instead, we used data from two separate studies that focused on people from approximately the same time and place.

For linguistic data, we relied on the Survey of English Dialects. Between 1950 and 1961, interviewers over 300 mostly rural places and asked people hundreds of questions about their daily lives. Their answers recorded the phrases, terms and sounds of local dialects of English. Each of these words can carry clues about where, or with whom, a person grew up.

The genetic data we used came from the People of the British Isles , an academic investigation of how much Britain's historical events of conquest, war and migration are reflected in British genetics. The project sequenced DNA from more than 2,000 people in Great Britain and Northern Ireland. Researchers genotyped people whose grandparents who were born within 50 miles (80 kilometers) of each other, were largely rural, and were born in the late 19th century.

The People of the British Isles project found that most genotypes were not local to any one part of Great Britain but were evenly distributed. However, the historical movements of people to Great Britain left genetic marks: with people in the rest of Great Britain, the genetics of those from the south of England were slightly more similar to those in France ā€“ a result of the Norman conquest a millennium ago ā€“ and the genetics of people in the former Danelaw were slightly more similar to modern Danes ā€“ because of the settling of the region by Vikings and, later, Danes. These events resulted in groups of people with somewhat similar genetics, a phenomenon referred to as genetic clustering.

We used features from the Survey of English Dialects to measure where neighboring towns spoke the most differently, which occurs at the borders between dialects. When people from neighboring towns speak the same dialect, we expect features of their language, such as whether the ā€œrā€ is pronounced at the ends of words, to be similar. Conversely, if nearby towns speak different dialects, their language features will be more different.

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Many of these dialect boundaries have long histories, such as that separating the English of the North from that of the South of England. Over time, dialects can persist in similar locations if geographic or cultural barriers influence how often and with whom people interact.

1938 black and white photo of postman pushing bike up hill in village
Rural life was more insular in the past.
Fox Photos/Hulton Archive via Getty Images

The echo of sounds long gone

We found greater genetic differences at the borders between dialects. Our results suggest that language, or some other aspect of culture, has limited how people interacted to some degree over the past thousand years. By limiting how often people started families with those from neighboring groups, cultural differences have maintained genetic evidence of the Norman conquest and other events from the Middle Ages.

This is the first time that information about linguistic dialects has been compared with modern genetic data within a population, particularly at such a granular level. Notably, people speaking different dialects have no obvious reason to avoid marrying one another, as would be expected from groups with specific marriage customs. Nevertheless, we find that even small-scale language differences, or other aspects of culture associated with these differences, can an impression on genes via people's mating behaviors.

Even though people outside of Britain may think of a general ā€œBritish accent,ā€ the subtle differences among dialects seem to have parallels with the genetics of the region. This is in spite of the fact that the languages brought by people coming to England have since mixed and merged to produce the modern English language and 's dialects.

The data used in our study represents the genetic landscape and dialects of the late 19th century; both have changed significantly since then. After the introduction of radio and television, dialects became more influenced by the around them. As a result, features of many English dialects in England, such as the pronunciation of ā€œrā€ at the ends of syllables, have become much less common.

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At the same time, immigrants from the former British Empire and elsewhere have brought a new influx of language. The cities in Great Britain have developed a set of new dialects rooted in the interactions among people from all ethnicities. As cultural barriers among groups fall away, small human interactions form the bridges that allow people to deemphasize differences and learn from one another.The Conversation

Yakov Pichkar, Ph.D. Candidate in Biological Sciences, Vanderbilt University and Nicole Creanza, Assistant Professor of Biological Sciences, Vanderbilt University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Black holes are mysterious, yet also deceptively simple āˆ’ a new space mission may help physicists answer hairy questions about these astronomical objects

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theconversation.com – Gaurav Khanna, Professor of Physics, of Rhode Island – 2024-05-15 07:16:18

An illustration of a supermassive black hole.

NASA/JPL

Gaurav Khanna, University of Rhode Island

Physicists consider black holes one of the most mysterious objects that exist. Ironically, they're also considered one of the simplest. For years, physicists like me have been looking to prove that black holes are more complex than they seem. And a newly approved European space mission called LISA will us with this hunt.

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Research from the 1970s suggests that you can comprehensively describe a black hole using only three physical attributes ā€“ their mass, charge and spin. All the other properties of these massive dying , like their detailed composition, density and temperature profiles, disappear as they transform into a black hole. That is how simple they are.

The idea that black holes have only three attributes is called the ā€œno-hairā€ theorem, implying that they don't have any ā€œhairyā€ details that make them complicated.

Black holes are massive, mysterious astronomical objects.

Hairy black holes?

For decades, researchers in the astrophysics community have exploited loopholes or work-arounds within the no-hair theorem's assumptions to up with potential hairy black hole scenarios. A hairy black hole has a physical property that scientists can measure ā€“ in principle ā€“ that's beyond its mass, charge or spin. This property has to be a permanent part of its structure.

About a decade ago, Stefanos Aretakis, a physicist currently at the University of Toronto, showed mathematically that a black hole containing the maximum charge it could hold ā€“ called an extremal charged black hole ā€“ would develop ā€œhairā€ at its horizon. A black hole's horizon is the boundary where anything that crosses it, even light, can't escape.

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Aretakis' analysis was more of a thought experiment using a highly simplified physical scenario, so it's not something scientists expect to observe astrophysically. But supercharged black holes might not be the only kind that could have hair.

Since astrophysical objects such as stars and planets are known to spin, scientists expect that black holes would spin as well, based on how they form. Astronomical evidence has shown that black holes do have spin, though researchers don't know what the typical spin value is for an astrophysical black hole.

Using computer simulations, my team has recently discovered similar types of hair in black holes that are spinning at the maximum rate. This hair has to do with the rate of change, or the gradient, of -time's curvature at the horizon. We also discovered that a black hole wouldn't actually have to be maximally spinning to have hair, which is significant because these maximally spinning black holes probably don't form in nature.

Detecting and measuring hair

My team wanted to develop a way to potentially measure this hair ā€“ a new fixed property that might characterize a black hole beyond its mass, spin and charge. We started looking into how such a new property might a signature on a gravitational wave emitted from a fast-spinning black hole.

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A gravitational wave is a tiny disturbance in space-time typically caused by violent astrophysical in the universe. The collisions of compact astrophysical objects such as black holes and neutron stars emit strong gravitational waves. An international network of gravitational observatories, the Laser Interferometer Gravitational-wave Observatory in the United States, routinely detects these waves.

Our recent studies suggest that one can measure these hairy attributes from gravitational wave data for fast-spinning black holes. Looking at the gravitational wave data offers an for a signature of sorts that could indicate whether the black hole has this type of hair.

Our ongoing studies and recent progress made by Som Bishoyi, a student on the team, are based on a blend of theoretical and computational models of fast-spinning black holes. Our findings have not been tested in the field yet or observed in real black holes out in space. But we hope that will soon change.

LISA gets a go-ahead

In January 2024, the European Space Agency formally adopted the space-based Laser Interferometer Space Antenna, or LISA, mission. LISA will look for gravitational waves, and the data from the mission could help my team with our hairy black hole questions.

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Three spacecrafts spaced apart sending light beams towards each other while orbiting the Sun

The LISA spacecrafts observing gravitational waves from a distant source while orbiting the Sun.

Simon Barke/Univ. Florida, CC BY

Formal adoption means that the has the go-ahead to move to the construction phase, with a planned 2035 launch. LISA consists of three spacecrafts configured in a perfect equilateral triangle that will trail behind the Earth around the Sun. The spacecrafts will each be 1.6 million miles (2.5 million kilometers) apart, and they will exchange laser beams to measure the distance between each other down to about a billionth of an inch.

LISA will detect gravitational waves from supermassive black holes that are millions or even billions of times more massive than our Sun. It will build a map of the space-time around rotating black holes, which will help physicists understand how gravity works in the close vicinity of black holes to an unprecedented level of accuracy. Physicists hope that LISA will also be able to measure any hairy attributes that black holes might have.

With LIGO making new observations every day and LISA to offer a glimpse into the space-time around black holes, now is one of the most exciting times to be a black hole physicist.The Conversation

Gaurav Khanna, Professor of Physics, University of Rhode Island

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Viruses are doing mysterious things everywhere ā€“ AI can help researchers understand what theyā€™re up to in the oceans and in your gut

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theconversation.com – Libusha , Associate Professor of and Computational Biology, Microbiology and Immunology, Albert Einstein College of Medicine – 2024-05-15 07:16:41

Many viral genetic sequences code for proteins that researchers haven't seen before.

KTSDesign/Science Photo Library via Getty Images

Libusha Kelly, Albert Einstein College of Medicine

Viruses are a mysterious and poorly understood force in microbial ecosystems. Researchers know they can infect, kill and manipulate human and bacterial cells in nearly every environment, from the oceans to your gut. But scientists don't yet have a full picture of how viruses affect their surrounding environments in large part because of their extraordinary diversity and ability to rapidly evolve.

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Communities of microbes are difficult to study in a laboratory setting. Many microbes are challenging to cultivate, and their natural has many more features influencing their or failure than scientists can replicate in a lab.

So systems biologists like me often sequence all the DNA present in a sample ā€“ for example, a fecal sample from a patient ā€“ separate out the viral DNA sequences, then annotate the sections of the viral genome that code for proteins. These notes on the location, structure and other features of genes researchers understand the functions viruses might carry out in the environment and help identify different kinds of viruses. Researchers annotate viruses by matching viral sequences in a sample to previously annotated sequences available in public databases of viral genetic sequences.

However, scientists are identifying viral sequences in DNA collected from the environment at a rate that far outpaces our ability to annotate those genes. This means researchers are publishing findings about viruses in microbial ecosystems using unacceptably small fractions of available data.

To improve researchers' ability to study viruses around the globe, my team and I have developed a novel approach to annotate viral sequences using artificial intelligence. Through protein language models akin to large language models like ChatGPT but specific to proteins, we were able to classify previously unseen viral sequences. This opens the door for researchers to not only learn more about viruses, but also to address biological questions that are difficult to answer with current techniques.

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Annotating viruses with AI

Large language models use relationships between words in large datasets of text to potential answers to questions they are not explicitly ā€œtaughtā€ the answer to. When you ask a chatbot ā€œWhat is the capital of France?ā€ for example, the model is not looking up the answer in a table of capital . Rather, it is using its training on huge datasets of documents and information to infer the answer: ā€œThe capital of France is Paris.ā€

Similarly, protein language models are AI algorithms that are trained to recognize relationships between billions of protein sequences from environments around the world. Through this training, they may be able to infer something about the essence of viral proteins and their functions.

We wondered whether protein language models could answer this question: ā€œGiven all annotated viral genetic sequences, what is this new sequence's function?ā€

In our proof of concept, we trained neural networks on previously annotated viral protein sequences in pre-trained protein language models and then used them to predict the annotation of new viral protein sequences. Our approach allows us to probe what the model is ā€œseeingā€ in a particular viral sequence that to a particular annotation. This helps identify candidate proteins of interest either based on their specific functions or how their genome is arranged, winnowing down the search of vast datasets.

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Microscopy image of spherical bacteria colored bright green

Prochlorococcus is one of the many species of marine bacteria with proteins that researchers haven't seen before.

Anne Thompson/Chisholm Lab, MIT via Flickr

By identifying more distantly related viral gene functions, protein language models can complement current methods to provide new insights into microbiology. For example, my team and I were able to use our model to discover a previously unrecognized integrase ā€“ a type of protein that can move genetic information in and out of cells ā€“ in the globally abundant marine picocyanobacteria Prochlorococcus and Synechococcus. Notably, this integrase may be able to move genes in and out of these populations of bacteria in the oceans and enable these microbes to better adapt to changing environments.

Our language model also identified a novel viral capsid protein that is widespread in the global oceans. We produced the first picture of how its genes are arranged, showing it can contain different sets of genes that we believe indicates this virus serves different functions in its environment.

These preliminary findings represent only two of thousands of annotations our approach has provided.

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Analyzing the unknown

Most of the hundreds of thousands of newly discovered viruses remain unclassified. Many viral genetic sequences match protein families with no known function or have never been seen before. Our work shows that similar protein language models could help study the threat and promise of our planet's many uncharacterized viruses.

While our study focused on viruses in the global oceans, improved annotation of viral proteins is critical for better understanding the role viruses play in and disease in the human body. We and other researchers have hypothesized that viral activity in the human gut microbiome might be altered when you're sick. This means that viruses may help identify stress in microbial communities.

However, our approach is also limited because it requires high-quality annotations. Researchers are developing newer protein language models that incorporate other ā€œtasksā€ as part of their training, particularly predicting protein structures to detect similar proteins, to make them more powerful.

Making all AI tools available via FAIR Data Principles ā€“ data that is findable, accessible, interoperable and reusable ā€“ can help researchers at large realize the potential of these new ways of annotating protein sequences leading to discoveries that benefit human health.The Conversation

Libusha Kelly, Associate Professor of Systems and Computational Biology, Microbiology and Immunology, Albert Einstein College of Medicine

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Human differences in judgment lead to problems for AI

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theconversation.com – Mayank Kejriwal, Research Assistant Professor of Industrial & Engineering, of Southern California – 2024-05-14 07:14:06

Bias isn't the only human imperfection turning up in AI.

Emrah Turudu/Photodisc via Getty Images

Mayank Kejriwal, University of Southern California

Many people understand the concept of bias at some intuitive level. In society, and in artificial intelligence systems, racial and gender biases are well documented.

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If society could somehow bias, would all problems go away? The late Nobel laureate Daniel Kahneman, who was a key figure in the field of behavioral economics, argued in his last book that bias is just one side of the coin. Errors in judgments can be attributed to two sources: bias and noise.

Bias and noise both play important roles in fields such as law, medicine and financial forecasting, where human judgments are central. In our work as computer and information scientists, my colleagues and I have found that noise also plays a role in AI.

Statistical noise

Noise in this context means variation in how people make judgments of the same problem or situation. The problem of noise is more pervasive than initially meets the eye. A seminal work, dating back all the way to the Great Depression, has found that different judges gave different sentences for similar cases.

Worryingly, sentencing in court cases can depend on things such as the temperature and whether the local football team won. Such factors, at least in part, contribute to the perception that the justice system is not just biased but also arbitrary at times.

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Other examples: Insurance adjusters might give different estimates for similar claims, reflecting noise in their judgments. Noise is likely present in all manner of contests, ranging from wine tastings to local beauty pageants to college admissions.

Behavioral economist Daniel Kahneman explains the concept of noise in human judgment.

Noise in the data

On the surface, it doesn't seem likely that noise could affect the performance of AI systems. After all, machines aren't affected by weather or football teams, so why would they make judgments that vary with circumstance? On the other hand, researchers know that bias affects AI, because it is reflected in the data that the AI is trained on.

For the new spate of AI models like ChatGPT, the gold standard is human performance on general intelligence problems such as common sense. ChatGPT and its peers are measured against human-labeled commonsense datasets.

Put simply, researchers and developers can ask the machine a commonsense question and compare it with human answers: ā€œIf I place a heavy rock on a paper table, will it collapse? Yes or No.ā€ If there is high agreement between the two ā€“ in the best case, perfect agreement ā€“ the machine is approaching human-level common sense, according to the test.

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So where would noise in? The commonsense question above seems simple, and most humans would likely agree on its answer, but there are many questions where there is more disagreement or uncertainty: ā€œIs the sentence plausible or implausible? My dog plays volleyball.ā€ In other words, there is potential for noise. It is not surprising that interesting commonsense questions would have some noise.

But the issue is that most AI tests don't account for this noise in experiments. Intuitively, questions generating human answers that tend to agree with one another should be weighted higher than if the answers diverge ā€“ in other words, where there is noise. Researchers still don't know whether or how to weigh AI's answers in that situation, but a first step is acknowledging that the problem exists.

Tracking down noise in the machine

Theory aside, the question still remains whether all of the above is hypothetical or if in real tests of common sense there is noise. The best way to prove or disprove the presence of noise is to take an existing test, remove the answers and get multiple people to independently label them, meaning answers. By measuring disagreement among humans, researchers can know just how much noise is in the test.

The details behind measuring this disagreement are complex, involving significant statistics and math. Besides, who is to say how common sense should be defined? How do you know the human judges are motivated enough to think through the question? These issues lie at the intersection of good experimental design and statistics. Robustness is key: One result, test or set of human labelers is unlikely to convince anyone. As a pragmatic matter, human labor is expensive. Perhaps for this reason, there haven't been any studies of possible noise in AI tests.

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To address this gap, my colleagues and I designed such a study and published our findings in Nature Scientific Reports, showing that even in the domain of common sense, noise is inevitable. Because the setting in which judgments are elicited can matter, we did two kinds of studies. One type of study involved paid workers from Amazon Mechanical Turk, while the other study involved a smaller-scale labeling exercise in two labs at the University of Southern California and the Rensselaer Polytechnic Institute.

You can think of the former as a more realistic online setting, mirroring how many AI tests are actually labeled before being released for and evaluation. The latter is more of an extreme, guaranteeing high quality but at much smaller scales. The question we set out to answer was how inevitable is noise, and is it just a matter of quality control?

The results were sobering. In both settings, even on commonsense questions that might have been expected to elicit high ā€“ even universal ā€“ agreement, we found a nontrivial degree of noise. The noise was high enough that we inferred that between 4% and 10% of a system's performance could be attributed to noise.

To emphasize what this means, suppose I built an AI system that achieved 85% on a test, and you built an AI system that achieved 91%. Your system would seem to be a lot better than mine. But if there is noise in the human labels that were used to score the answers, then we're not sure anymore that the 6% improvement means much. For all we know, there may be no real improvement.

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On AI leaderboards, where large language models like the one that powers ChatGPT are , performance differences between rival systems are far narrower, typically less than 1%. As we show in the paper, ordinary statistics do not really come to the rescue for disentangling the effects of noise from those of true performance improvements.

Noise audits

What is the way forward? Returning to Kahneman's book, he proposed the concept of a ā€œnoise auditā€ for quantifying and ultimately mitigating noise as much as possible. At the very least, AI researchers need to estimate what influence noise might be .

Auditing AI systems for bias is somewhat commonplace, so we believe that the concept of a noise audit should naturally follow. We hope that this study, as well as others like it, to their adoption.The Conversation

Mayank Kejriwal, Research Assistant Professor of Industrial & Systems Engineering, University of Southern California

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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