Articles tagged with Genomic Analysis
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
A new study has found that bats' extraordinary ability to host and survive infections may be linked to their low cancer rates. Researchers sequenced the genomes of two bat species and compared them to other mammals, discovering genetic adaptations that allow bats to tolerate viral infections.
A new study found that most C. diff infections are caused by characteristics associated with the patient themselves, not hospital transmission. Researchers analyzed fecal samples from over 1,100 ICU patients and discovered only six genomically supported transmissions during a nine-month period.
Researchers identified distinct genomic characteristics that impact prognosis for patients with triple negative apocrine carcinoma. The study confirmed a five-year disease-free survival rate of 92.2% for these patients, significantly higher than those diagnosed with other types of TNBC.
A new study found that flowering plants suffered some species loss but became the dominant type of plant after the mass extinction event. They adapted through various seed-dispersal and pollination mechanisms, genomic duplication, and innovative photosynthesis methods.
Researchers confirm invasive red fire ant species Solenopsis invicta has established itself in Sicily, with potential to spread across Europe due to climate change. Urban areas are particularly at risk, and the team plans a multi-year treatment plan to eradicate nests and monitor the ants' spread.
Scientists have detected new strains of malaria-causing parasites in Ethiopia that are resistant to current treatments and escape detection by common diagnostic tests. The prevalence of these double-resistant parasites is a concern for malaria control and elimination efforts in Africa, where the disease remains endemic.
A new study has shed light on the origins of St Helena's 'liberated' Africans, who were brought to the island between 1840 and 1867. The research reveals that they most likely originated from areas between northern Angola and Gabon in West Central Africa.
Researchers found that pregnant mice experiencing copy number variation (CNV) showed similarities to aging, with biomarkers and genetic effects appearing during pregnancy and reversing after delivery. This study aims to revolutionize aging treatment by investigating the mechanisms behind post-labor rejuvenation.
Researchers at Pitt Public Health analyzed thousands of human genomes to find new gene variations influencing Alzheimer's disease risk. They identified 15 additional variations in the APOE gene and other genome areas that may influence disease risk, although more research is needed for definitive conclusions.
Researchers have identified specific genetic elements in a highly virulent Lyme disease strain, suggesting key factors contributing to its infectiousness and human dissemination. The study's findings provide new insights into the spread of this debilitating disease.
The study validates a comprehensive genomic profiling assay, NeXT Dx, which detects single nucleotide variants, indels, copy number alterations, and gene fusions. The assay demonstrates high analytic sensitivities and specificity, providing personalized recommendations critical to clinical decision-making.
Researchers found that white-tailed deer are virus reservoirs, promoting ongoing mutation of the SARS-CoV-2 virus. At least 30 infections were introduced by humans, and an estimated 23.5% of deer had been infected at one time or another.
Researchers found that specific regions of the genome with unique features act as hotspots for mutation accumulation in human cancer. Certain mutational signatures linked to alcohol consumption accumulate in early-replicated genome segments, defying conventional understanding.
A groundbreaking study has unraveled the secrets of a 3,800-year-old extended family from a Bronze Age necropolis in the Russian steppe. The research reveals that most women buried in the kurgan were immigrants, while their sisters found new homes elsewhere, highlighting the importance of female marriage mobility in prehistoric societies.
Research by the Peter Doherty Institute found that inflammation alters plasma composition, hindering parasite maturation. This work reveals a new mechanism slowing down malaria parasite development in the bloodstream.
A new study improves the chances of finding the right drug to kill individual cancers in children by incorporating high-throughput drug screening into precision medicine. The approach reveals additional drug sensitivities and predicts clinical response, leading to better treatment options.
Genome analysis reveals that hulled and naked oat varieties were domesticated independently around 51,000 years ago. The study found higher genetic diversity in naked oat compared to hulled oat, contradicting the long-held assumption of a recent mutation.
A study analyzing genomic data from 34 fossils, including the famous sambaquis shell mounds, found that Luzio, São Paulo's oldest skeleton, was a descendant of the ancestral population that settled the Americas at least 16,000 years ago. The research also revealed differences between coastal and inland communities, suggesting two disti...
Researchers discovered a new nematode species in Siberian permafrost with molecular toolkit for survival, sharing similarities with Caenorhabditis elegans. The species, Panagrolaimus kolymaensis, can survive extreme conditions by producing trehalose and mild dehydration exposure.
Researchers identified 145 key genetic points controlling skeletal proportions using AI on tens of thousands of X-ray images and genetic sequences. This discovery opens a window into predicting patients' risks of developing conditions like back pain or arthritis.
Researchers analyzed genes and conducted family studies, discovering mutations in the DHX9 gene disrupting its normal function. The study supports that variations of DHX9 underlie human neurodevelopmental disorders and neuropathy.
A new study reveals that biscuspid aortic valve is caused by mutations in the MINDBOMB1 gene, with significant implications for developing alternative treatments to surgery. The research combines genome sequencing and gene editing techniques to analyze the mechanisms of this congenital defect.
Researchers developed a computational technique combining genomic and tau PET imaging data to identify four subtypes of Alzheimer's disease. The integrated approach also revealed top genes associated with each subtype. This personalized diagnostic technique has potential for broad utility across various diseases.
A new study has identified 16 new locations in the genome linked to immunoglobulin A (IgA) nephropathy, a common kidney disease. The research confirms an earlier hypothesis that the immune system plays a key role in driving the disease and provides potential drug targets for treatment.
A new study sheds light on the genetic heritage of chickpeas by analyzing landrace genomics from over 400 specimens collected in the 1920s and 1930s. The research reveals that the spread of chickpeas within each region occurred predominantly along trade routes, rather than through simple diffusion.
The researchers have demonstrated significant improvements for chip-based sensing devices that can detect or analyze substances across widely varying concentrations. They developed signal-processing techniques that enable seamless fluorescence detection of a mixture of nanobeads in concentrations across eight orders of magnitude.
A new study by CNIC researchers reveals that low-grade systemic inflammation triggered by subclinical atherosclerosis accelerates epigenetic aging in otherwise healthy young individuals. The study found a strong association between atherosclerosis progression and accelerated biological age, with potential reversibility through lifestyl...
A new genomic analysis reveals a north-south divide in P. falciparum drug resistance markers and genetic structure in Mozambique. The findings suggest that artemisinin remains effective for treating malaria, while piperaquine can be used in combination therapies. However, the high frequency of quintuple mutants requires close monitorin...
A team of scientists has discovered that IL-17 protein plays a central role in skin ageing, leading to inflammation and deterioration. Temporary inhibition of IL-17 slows down the appearance of aging symptoms, offering new possibilities for treating skin conditions and facilitating recovery after surgery.
Researchers have unlocked the large-scale genomic analysis of foxtail millet, an important cereal crop that has been grown for roughly 11,000 years. The study identified key genes and marker-panels for its evolution and improvement in different environments.
Researchers have developed a self-teaching web app called BRIDGEcereal that quickly and accurately analyzes genomic data for cereal crops, identifying patterns of DNA variations. This breakthrough tool is expected to revolutionize crop improvement by efficiently mining publicly accessible cereal pan-genomes.
Scientists using popular computational tools to interpret AI predictions are picking up too much 'noise' when analyzing DNA. Researchers have found a way to fix this by applying a new line of code, leading to more reliable explanations and potentially unlocking the next breakthrough in health and medicine.
Scientists have found that siblings with autism spectrum disorder (ASD) share more of their father's genome than initially thought. In many cases, it is the father who may play a bigger genetic role in ASD. This discovery offers new potential sources for understanding and treating the disorder.
Researchers at the University of Illinois have identified strong correlations between SARS-CoV-2 cases and deaths, temperature, and latitude. The studies suggest that the virus is genetically encoded to exhibit seasonal behavior, which could be influenced by vaccine design.
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
The human pangenome reference combines genetic material from 47 individuals, enabling a deeper and more accurate understanding of worldwide genomic diversity. This improves the detection of variants in the human genome, particularly structural variants that can have important health implications.
A USC researcher and international team identified consistent DNA base pairs across 240 mammals, including humans, that play a key role in human disease. These 'constrained' base pairs remained generally consistent over millions of years of evolution and are significantly linked to genetic variation.
Researchers at NIH have identified large-scale DNA changes, known as structural variants, that contribute to dementia risk. These variants were found in samples from patients with Lewy body dementia and frontotemporal dementia.
Researchers have identified mechanisms behind the emergence of new and contagious coronavirus variants by analyzing over three million genome sequences. The study found that concordant substitutions occurring at other sites influence the likelihood of a substitution occurring at a specific site, leading to unexpected variant emergence.
The study reveals that mammals diversified before the K-Pg extinction, driven by continental drifting and stability following the mass extinction. This led to the rich diversity of mammal lineages, including carnivores, primates, and hoofed animals.
A new study reveals that analyzing DNA can help predict which animals are most at risk of extinction. By examining the genomes of 240 mammal species, scientists found that those with smaller historical populations carry higher burdens of damaging mutations and are more likely to face extinction.
A large-scale genomic study of 240 mammal species reveals previously uncharacterized regulatory elements in the human genome, linked to disease risks and distinctive traits. The research provides insights into the evolutionary development of mammalian genomes and their potential applications in medical research.
A Cornell University-led project has reconstructed Balto's phenotype using ancient DNA extraction and analysis. The research reveals that Balto had a genetically healthier and less inbred lineage than modern breeds, with characteristics adapted to the extreme environment of 1920s Alaska.
Two contagious cancers, devil facial tumour 1 (DFT1) and 2 (DFT2), affecting Tasmanian devils have been tracked to understand their origins and evolution. Researchers found DFT2 is a faster-growing cancer with rapid mutations, posing a significant threat to the species.
A new genomic catalogue of malignant peripheral nerve tumour-derived lines has challenged current diagnostic criteria, revealing misdiagnosed cell lines and a shared cell line masquerading as different types. The catalogue provides new information to develop precision therapies for these tumours.
A new clinical RNA sequencing platform at SickKids is helping researchers understand complex genetic conditions and improve diagnosis for patients with rare diseases. The platform has been validated to be used in the clinical space, providing valuable diagnostic information that complements genome sequencing.
A recent study published in PLOS Biology identifies a global strain of emerging wheat disease fungus, highlighting the importance of genomic surveillance in tracking pathogen evolution and crop resistance. The research found that breeds of wheat carrying the Rmg8 gene are resistant to this fungal strain.
A groundbreaking study finds that horses were raised, fed, and ridden by Indigenous Peoples on the American Plains over 700,000 years ago. Genetic analysis reveals a strong Iberian ancestry, contradicting the prevailing narrative of European introduction after the Pueblo Revolt of 1680.
Researchers have created a new tool, EN-TEx, to analyze genetic mutations and predict disease risk. The catalog of allele-specific variants provides rich data for accurate personal genomics, enabling scientists to study the effects of genetic mutations in tissues that are difficult to obtain without surgery.
The study confirms that a significant number of people from Southwest Asia moved to the Swahili coast in medieval and early modern times, having children with local populations. Hallmarks of the Swahili civilization predated these arrivals, contradicting previous scholarly views.
Researchers analyzed autopsies of 14 patients with advanced melanoma, finding that changes to tumor DNA can cause resistance to treatment. The study sheds light on the final stages of cancer and may lead to new treatments for patients with advanced disease.
A new American Heart Association scientific statement provides guidance on interpreting incidental genetic variants associated with cardiovascular disease risk. The statement aims to determine whether a variant truly carries a health risk and suggests next steps for individuals and healthcare professionals.
Researchers analyzed DNA from Beethoven's hair to shed light on his chronic health problems, including progressive hearing loss. They found genetic risk factors for liver disease and evidence of a hepatitis B virus infection, which likely contributed to his death.
Researchers developed a novel machine-learning algorithm that analyzes a person's entire transcriptome to create an 'atlas' of pediatric cancer. The platform refines cancer diagnoses for 85% of pediatric cancer patients, identifying 455 subtypes of cancer and revealing subtle differences within subtypes.
An international research team analyzed over 400 Omnitrophota genomes, uncovering details about their biology and behavior. The study found that Omnitrophota are hyperactive with high metabolic rates, possibly as predators or parasites of other microorganisms.
A recent genomic study identifies two genetically distinct Ashaninka subgroups, suggesting a complex history of interactions with neighboring populations. The research also hints at a possible migration from southeastern South America or the Southern Cone, shedding new light on the genetic origins of this Indigenous group.
A recent study analyzed 7,301 metastatic breast cancer patients with MTAP loss, revealing younger age, higher TNBC cases, and BRCA1 mutations. The findings also suggest potential therapeutic agents targeting PRMT5 and MTA2 in MTAP-deficient cancers.
The giant faba bean genome has been successfully sequenced, offering insights into its traits such as drought tolerance and protein content. This breakthrough has the potential to improve crop yields and reduce reliance on artificial fertilizers, making faba bean a more attractive crop for sustainable agriculture.
Researchers used UK Biobank image and genomic data to uncover insights into rare retinal dystrophies, a leading cause of blindness in working-age adults. The study identified new genetic associations with the thickness of photoreceptor cell layers, offering new avenues for research and diagnosis.
Bielefeld University researchers developed an AI method using Capsule Networks to analyze genotype profiles of 3,000 ALS patients, achieving 87% accuracy in predicting whether or not people will develop ALS. The study reveals over 900 genes that play a role in identifying the disease.