DiffInvex identifies evolutionary shifts in driver gene repertoires during tumorigenesis and chemotherapy, pinpointing mutational escape routes that let cancers resist treatment. The framework reveals which genes may ignite resistance to anticancer drugs, suggesting a core circuitry boosting strategy.
SourceInstitute for Research in Biomedicine (IRB Barcelona)·JournalNature Communications·DateMay 13, 2025
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Researchers analyzed DNA from four generations of a large family to understand genetic mutations and their transmission. They found that the rate of de novo mutations varied by over twenty-fold depending on genome location.
SourceUniversity of Washington School of Medicine/UW Medicine·JournalNature·TypeExperimental study·DateApr 23, 2025
A team of researchers has developed a comprehensive atlas of genetic change through generations, revealing that parts of the human genome change much faster than previously known. This discovery has significant implications for understanding human disease and evolution, including the roots of genetic diseases.
SourceUniversity of Utah Health·JournalNature·TypeObservational study·DateApr 23, 2025
A comprehensive study examining over 16,000 necropsy records from 292 vertebrate species found significant differences in cancer prevalence. Cancer rates increase with body size and cellular mutation rates but decrease with longer gestation periods.
SourceArizona State University·JournalCancer Discovery·TypeMeta-analysis·DateOct 25, 2024
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Scientists at IRB Barcelona have discovered a link between gene copy number alterations and mutations in tumour suppressor genes, which could lead to new cancer treatments. The study found that both increases and decreases in the number of gene copies can drive cancer evolution.
SourceInstitute for Research in Biomedicine (IRB Barcelona)·JournalNature Communications·DateJul 23, 2024
Scientists found that a small increase in temperature can drastically change mutation frequency in E. coli bacteria, facilitating resistance development. The results suggest using fever control or antimicrobial drugs at higher temperatures to mitigate antibiotic resistance.
SourceUniversity of Groningen·JournalJAC-Antimicrobial Resistance·TypeExperimental study·DateJun 14, 2024
Researchers at IRB Barcelona have identified 'coldspots' in the cancer genome with lower mutation rates, linked to low DNA methylation. This discovery could facilitate targeted therapies and diagnostic tools to monitor specific genomic regions and prevent cancer development.
SourceInstitute for Research in Biomedicine (IRB Barcelona)·JournalNucleic Acids Research·DateApr 10, 2024
Researchers analyzed genome sequences from over 4,000 tumours to identify patterns of DNA mutations that vary between individuals. They found 13 distinct patterns, with 10 corresponding to different types of tissue, and discovered that the density of mutations in specific genes varies significantly between individuals.
SourceInstitute for Research in Biomedicine (IRB Barcelona)·JournalNature Cancer·DateJan 10, 2024
An international research team discovered sharks have the lowest mutation rate between generations, enabling slow adaptation but also making them vulnerable to ecological changes and extinction threats
SourceUniversity of Würzburg·JournalNature Communications·DateOct 23, 2023
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A team of scientists used a new method to estimate mutation rates in wild whale populations, revealing higher rates similar to smaller mammals. This led to a significant revision of previous estimates, suggesting that only 20,000 humpback whales remained in the North Atlantic before commercial whaling.
SourceUniversity of Groningen·JournalScience·TypeObservational study·DateAug 31, 2023
Researchers discovered a deep connection between the sums-of-digits function from number theory and phenotype mutational robustness in genetics. The maximum robustness is proportional to the logarithm of the fraction of all possible sequences that map to a phenotype, with a correction given by the sums of digits function s_k(n).
SourceUniversity of Oxford·JournalJournal of The Royal Society Interface·DateAug 1, 2023
A recent study published in Environment International found that the mutation rate in trees growing in contaminated areas did not increase significantly due to ambient radiation. The researchers used a new bioinformatics pipeline to evaluate de novo mutations in two widely cultivated tree species, Japanese cedar and flowering cherry.
SourceForestry and Forest Products Research Institute·JournalEnvironment International·TypeExperimental study·DateApr 6, 2023
Researchers at Indiana University found that the average age of human conception is around 26.9 years, with fathers averaging 30.7 years and mothers averaging 23.2 years over the past 250,000 years. The study also suggests that the age gap between fathers and mothers has narrowed in recent times.
SourceIndiana University·JournalScience Advances·TypeData/statistical analysis·DateJan 6, 2023
A new study by OIST researchers has developed a model that determines variations in the speed of DNA copying proteins in bacterial genomes. The model shows that certain sections of DNA are copied faster than others, and this variation is linked to an increased error rate, which could have implications for mutation rates.
SourceOkinawa Institute of Science and Technology (OIST) Graduate University·JournaleLife·TypeComputational simulation/modeling·DateSep 29, 2022
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Researchers at CSU found that a gene called MSH1 helps keep plant mitochondrial genomes mutation-free, allowing for quick sorting of normal and diseased DNA. This process is more efficient in plants than in humans, where mutations are passed down through generations.
SourceColorado State University·JournalProceedings of the National Academy of Sciences·TypeExperimental study·DateAug 29, 2022
Researchers have identified 42 genes related to 15 different cellular mechanisms that affect the risk of different types of somatic mutations. This comprehensive study may help explain cancer predisposition and potentially personalize prevention programs and cancer treatments.
SourceInstitute for Research in Biomedicine (IRB Barcelona)·JournalNature Communications·DateJul 5, 2022
Researchers discovered that genetic mutations accumulated slowly over a lifetime lead to a shift in blood cell populations after 70, causing reduced diversity and impaired function. This finding explains the sudden deterioration in organ function after aging.
SourceWellcome Trust Sanger Institute·JournalNature·TypeData/statistical analysis·DateJun 1, 2022
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Researchers have found that mutational signatures, which reflect a collection of mutations across the genome, can accurately predict drug response in cancer cells. The study suggests that these signatures may hold the key to better cancer therapies and could be used to predict treatment response.
SourceInstitute for Research in Biomedicine (IRB Barcelona)·JournalNature Communications·TypeComputational simulation/modeling·DateMay 26, 2022
Researchers identified a region of the mouse genome associated with higher mutation rates, which is linked to a specific gene called Mutyh. This finding supports the theory that genetic differences can affect mutation rates, and may also shed light on cancer susceptibility.
SourceUniversity of Washington School of Medicine/UW Medicine·JournalNature·TypeExperimental study·DateMay 11, 2022
Researchers found that DNA polymerases derived from E. coli are more prone to errors under microgravity, increasing the mutation rate and potentially leading to cancer. The study's results highlight the importance of designing rotating spaceships with artificial gravity to prevent negative effects on astronauts' health.
SourceFrontiers·JournalFrontiers in Cell and Developmental Biology·TypeExperimental study·DateNov 29, 2021
A new web tool, webSalvador, offers more accurate methods for constructing confidence intervals and comparing mutation rates in bacteria mutation research. This tool eliminates the need for scientists to learn programming languages, increasing efficiency and efficacy of the Luria-Delbrück experiment.
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Research reveals that regions of the human genome with unusual DNA folding tend to have higher mutation rates than others. The study found that non-B DNA sequences, which can fold into different conformations, play a major role in determining regional variation in mutation rates across the genome.
SourcePenn State·JournalNucleic Acids Research·DateFeb 9, 2021
Scientists have found a link between mutation rate and genome size in prokaryotes, with higher mutation rates associated with faster gene loss and smaller genomes. The study challenges the current idea that population size is the main factor driving genome reduction in prokaryotes.
SourceOkinawa Institute of Science and Technology (OIST) Graduate University·JournalCurrent Biology·DateAug 6, 2020
A new analytical method has been developed to address the limitations of estimating evolutionary history of various sex-determination systems. The method, based on male mutation bias, reveals that some species share an XY system for several million years before it is lost, as recently as 20-60 million years ago in some lineages.
SourceSMBE Journals (Molecular Biology and Evolution and Genome Biology and Evolution)·JournalGenome Biology and Evolution·DateDec 23, 2019
A new study published in eLife shows that children inherit a varying number of genetic mutations from their parents, with older fathers passing on more mutations to their offspring. The study analyzed data from 603 individuals from 33 three-generation families and found significant variability in mutation rates among families.
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A new study published in PLOS Biology found that plant parts with longer lifespans, such as stems and roots, have lower mutation rates compared to those with shorter lifespans, like leaves and petals. The researchers also discovered that plants with more future prospects for mutations tend to have lower relative mutation rates.
Researchers found that the giant duckweed has extremely low genetic diversity and mutation rate, which may be due to its large population size. This study provides new insights into why genetic diversity differs among species.
SourceUniversity of Münster·JournalNature Communications·DateMar 26, 2019
Researchers from Aarhus University discovered that the human mutation rate is slower than in our closest primate relatives. This finding may impact conservation efforts and our understanding of species evolution. The study estimated a common ancestor for humans and chimpanzees to have lived around 6.6 million years ago.
SourceAarhus University·JournalNature Ecology & Evolution·DateJan 22, 2019
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Researchers at ETH Zurich found that initial estimates of Ebola's genome change rate were due to biased computer models and limited virus sample data. The team's new calculations show a slower, more accurate mutation rate over time.
SourceETH Zurich·JournalProceedings of the National Academy of Sciences·DateApr 12, 2018
Researchers at Kyoto University used a chimpanzee parent-offspring trio to estimate direct mutation rates, finding higher rates than in humans. The study also revealed a strong male-biased mutation spectrum and new structural alterations.
SourceKyoto University·JournalScientific Reports·DateNov 7, 2017
Researchers have identified a key gene called NucS that reduces mutation rates in mycobacteria, the infectious microbe causing tuberculosis. This discovery has important implications for understanding antibiotic resistance and could help predict and prevent the development of drug-resistant TB strains.
SourceUniversity of Sussex·JournalNature Communications·DateJan 27, 2017
Researchers at Uppsala University sequenced the genomes of 11 flycatchers, estimating the mutation rate in birds for the first time. The study found that more common species have lower mutation rates.
SourceUppsala University·JournalGenome Research·DateSep 6, 2016
Researchers at Columbia University develop a new model considering life history traits' impact on mutation rates, finding that the molecular clock wobbles as it evolves. This leads to revised estimates of the human-chimp split time, supporting a mutational slowdown and reconciling genetic and paleontological data.
SourceColumbia University·JournalProceedings of the National Academy of Sciences·DateJan 28, 2016
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A recent study by Dr. Anthony Griffiths reveals that the Ebola virus has a high frequency of spontaneous mutation, which could prove useful for developing therapies. Increasing the mutation rate may make the virus non-viable, providing a potential therapeutic tool against the disease.
SourceTexas Biomedical Research Institute·JournalJournal of Virology·DateJan 5, 2016
Researchers have obtained the first precise estimates of how often epigenetic marks appear or disappear in the plant Arabidopsis thaliana. The study found that epigenetic mutations are about 100,000 times more likely than DNA sequence mutations and nearly all are neutral, not affecting gene expression.
SourceUniversity of Groningen·JournalProceedings of the National Academy of Sciences·DateMay 11, 2015
Scientists have developed a shape-shifting molecule that tricks viruses into mutating themselves to death. This breakthrough could lead to the development of more effective anti-viral treatments.
SourceUniversity of Chicago·JournalProceedings of the National Academy of Sciences·DateApr 15, 2015
A study analyzing 17 million mutations in 650 cancer patients found that genetic mistakes are better repaired in some parts of the human genome, with genes switched on having lower mutation rates. The 'mismatch repair' mechanism varies in efficiency depending on chromosome regions.
SourceCenter for Genomic Regulation·JournalNature·DateFeb 23, 2015
Researchers discovered that 'lonely' microbes are more likely to mutate, resulting in higher rates of antibiotic resistance. The rate of mutation varies according to the number of bacteria present, with more 'lonely' bacteria developing greater resistance to antibiotics like Rifampicin.
SourceWellcome Trust·JournalNature Communications·DateApr 29, 2014
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A team of researchers at Indiana University has discovered that spontaneous mutation rates in E. coli DNA are three times lower than previously thought. The study also found that mismatch repair proteins play a crucial role in maintaining the balance of guanine-cytosine and adenine-thymine content in the genome.
SourceIndiana University·JournalProceedings of the National Academy of Sciences·DateSep 17, 2012
A large survey of human genetic variation reveals that rare genetic variants are surprisingly common, affecting millions of people. The study, published in Science, found that one individual in 14,002 had a unique variant in each of 202 genes.
SourceUniversity of California - Los Angeles·JournalScience·DateMay 17, 2012
Researchers found that generation time is a strong indicator of mutation rate, accounting for 40% of variation among species. Male mutation bias, where males have higher DNA mutations than females, was also linked to generation time. In contrast, metabolic rate appeared to be only a moderate predictor of mutation rates.
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Researchers have identified intrinsic properties of DNA that influence mutation rate, including the impact of CpG content. The study suggests that the co-variation of CpG content and non-CpG mutation rate is a property of the DNA sequence itself.
SourceCold Spring Harbor Laboratory·JournalGenome Research·DateMay 23, 2010
Researchers found that some antiviral drugs may make viruses stronger, rather than killing them, raising concerns about their effectiveness and potential to create super viruses
SourceGenetics Society of America·JournalGenetics·DateJan 13, 2010
A team of scientists has measured the general rate of genetic mutation at individual DNA letters in humans for the first time. The study found that most mutations are harmless and have no apparent effect on health or appearance, with an average of 100-200 new mutations per person.
SourceWellcome Trust Sanger Institute·JournalCurrent Biology·DateAug 27, 2009
Researchers at UTSA and Hawaii's John A. Burns School of Medicine found that somatic cell nuclear transfer (SCNT) does not increase point mutation rates in cloned mice, with naturally conceived fetuses having similar rates as their cloned counterparts.
SourceUniversity of Texas at San Antonio·JournalProceedings of the National Academy of Sciences·DateMar 25, 2009
Researchers find that stressed cells introduce errors in DNA repair, but only in specific locations and times, which can increase the chances of beneficial mutations. This process may accelerate the evolution of complex protein machines.
SourceBaylor College of Medicine·JournalMolecular Cell·DateSep 15, 2005
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A recent study found a statistically significant increase in mutation rates among offspring of irradiated fathers, suggesting a possible link between ionising radiation and childhood leukaemia. The study's findings have implications for the estimates of genetic risk for humans and may lead to new avenues for research.
Researchers found that older men's sperm contain more disease-causing genetic mutations, which surprisingly increase the chances of fertilization. The mutations may confer a competitive advantage to the sperm, contributing to the increased incidence of rare genetic diseases in children born to older fathers.
SourceJohns Hopkins Medicine·JournalAmerican Journal of Human Genetics·DateAug 19, 2003
A recent study confirms that mutations are mainly caused by random errors in cell divisions, contradicting earlier estimates. The study found a low male-female mutation rate, especially in closely related species, but a high alpha in distantly related species, supporting the dominant role of males in driving evolution.
SourceUniversity of Chicago Medical Center·JournalNature·DateApr 10, 2002
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Digital organisms created using Avida software are used to study the effect of high mutation rates on evolution. The researchers found that a trade-off exists between producing offspring quickly and making them more robust to mutations, suggesting that slower reproduction may be beneficial for survival in highly turbulent environments.
SourceMichigan State University·JournalNature·DateJul 18, 2001