Articles tagged with Genetic 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 recent study from the University of Edinburgh reveals that tardigrades have not acquired a significant proportion of their DNA from other organisms. The research found that nearly all of what was previously proposed to be foreign DNA was actually bacterial contamination.
Researchers designed a minimal bacterial genome containing only essential genes for life, consisting of 473 genes. The JCVI-syn3.0 platform represents a versatile tool for investigating the core functions of life.
The MEGA7 edition features significant upgrades to speed up data-crunching time and handle larger DNA datasets. This allows researchers to analyze more complex genetic information, driving global evolutionary discoveries.
Researchers identified four genes XPO1, BCL11A, REL, and USP34 as responsible for a rare chromosomal deletion disorder. The study found that loss of these genes leads to intellectual disability, microcephaly, and other symptoms.
A genetic analysis of critically endangered Orinoco crocodile hatchlings reveals that some clutches may be fathered by two or three male crocodiles. The study, published in PLOS ONE, found that half of the clutches were fathered by multiple males.
Researchers identify IRF4 as the first gene associated with greying hair, revealing a genetic link to human aging. The study analyzed 6,000 people from diverse ancestry, uncovering additional genes influencing hair shape, curliness, and density.
Scientists have identified a spectrum of genetic alterations, including some that may be clinically actionable and others that could improve diagnostics and screening for patients. The study's findings suggest targeted therapies and immunotherapies could be effective treatments for mesothelioma.
Researchers at Cornell University found that fairy-wren pairs who sing duets are less likely to mate with other males, resulting in higher rates of their own genetic offspring. The strong duet-singing response also reduces cuckoldry in these pairs.
Researchers from PLOS ONE discovered three skeletons buried in medieval graves in France that may have belonged to Muslims, with DNA analysis revealing paternal lineage from North Africa. The burials follow Islamic rites and radiocarbon dating suggests the skeletons are from the 7th-9th centuries.
A new forensic footwear imaging technique using Frustrated Total Internal Reflection (FTIR) imaging has been developed to extract additional information and create detailed digital pictures of personal footprints. This technology has the potential to link individuals or their shoes to specific locations, vital for law enforcement.
A Spanish study analyzed 2,000 volunteers and found that men sharing rare surnames have similar Y chromosomes, indicating they descended from the same original bearers. The correlation between surname frequency and Y chromosome variation only depends on surname frequency.
A new study by NYU researchers identifies molecular switches that turn on gene expression in the notochord, a precursor to the backbone. The team used a marine organism called Ciona and found that specific transcription factors bind DNA sequences, known as CRMs, to control gene expression.
A landmark genetic study found that a person's risk of schizophrenia is increased if they inherit specific variants in the complement component 4 (C4) gene, which plays a role in synaptic pruning. This discovery helps explain decades-old observations and may lead to future therapeutic strategies targeting the disorder's roots.
A Neolithic Spanish burial site reveals a closely related local community from 6000 years ago, with at least 47 adults and adolescents buried in a megalithic tomb. The analysis suggests that the individuals farmed cereal crops and had family members buried side-by-side, indicating significant shifts in social identity.
A new species of bird, the Himalayan Forest Thrush, has been discovered in north-eastern India and adjacent parts of China by an international team of scientists. Genetic analysis reveals three distinct species within a previously thought to be single species, Plain-backed Thrush.
A new species of bird has been discovered in northeastern India and adjacent parts of China by an international team of scientists. The Himalayan forest thrush Zoothera salimalii has distinct differences in plumage, structure, song, and DNA from other related species.
Researchers at Rice University have created a new tool to analyze DNA in its native conditions, reducing analysis time from months to hours. The method generates more accurate results and can be used to build a comprehensive database of thermal behaviors of genetic molecules.
A recent study published in Genome Biology suggests that genetic factors play a significant role in determining our choice of romantic partners. The research found that the genes controlling an individual's height also influence their preference for a partner with similar height, accounting for 89% of genetic variation.
A new study has identified 138 genes essential for plant-fungal symbiosis, which could lead to the development of crop varieties that thrive without fertilizers. This discovery was made possible by comparing genome sequences of plants with and without this symbiotic relationship.
Researchers at UW Medicine developed a method to identify tissues contributing to cell-free DNA by analyzing fragmentation patterns, expanding the scope of liquid biopsies. This approach may aid in diagnosing unknown metastatic cancers and help guide treatment.
A new study found that a blood test monitoring dead cancer cell DNA is superior at tracking the severity and potential spread of metastatic melanoma. This non-invasive test detected cancer recurrence in 85% of patients, compared to 54% with the current standard test.
The study, funded by the National Eye Institute, identified FOXC1, TXNRD2, and ATXN2 as contributing genes to primary open-angle glaucoma. Variations in these genes may lead to reduced mitochondrial protection, increasing optic nerve cell death.
Researchers at the Allen Institute for Brain Science have developed a taxonomy of cells in the mouse visual cortex based on single-cell gene expression, identifying 42 neuronal and 7 non-neuronal cell types. This study provides a basic understanding of brain function by categorizing cellular building blocks.
The study analyzed the fossil record and found a burst of evolution into new forms, followed by specialization that resulted in modern mammal groups. The team built an updated tree of life containing over 177 species, revealing a significant increase in mammal diversity after the extinction event.
Researchers identified 52 genetic variations associated with AMD across 34 gene regions, offering hope for developing diagnostic tests and therapeutics. The study also found rare genetic variations in one subtype of AMD, which could explain why anti-VEGF therapy is less effective in some patients.
Researchers at Imperial College London have discovered two clusters of genes linked to human intelligence, which may influence cognitive functions such as memory and attention. The study provides new insights into the genetic basis of intelligence and may lead to future treatments for neurodevelopmental diseases.
A new, inexpensive, and quick method for detecting tuberculosis has been devised, using a nucleic acid amplification test on disposable electrochemical sensors. The modified test, which involves a colorimetric assay that changes to blue if the infection is present, can be performed with minimal equipment and expertise.
A meta-analysis of 14 studies found that genes play a smaller role in intelligence among US participants from low socioeconomic backgrounds. The study suggests that robust healthcare systems in other countries buffer the negative effects of poverty on genetic potential.
At different hydration levels, researchers found that water contributes to subpicosecond structure fluctuations and broadens vibrational transitions in DNA. The study also reveals a pronounced coupling of backbone modes and an energy transfer between them.
Researchers investigated the reasons behind tamoxifen's varying efficacy in women. Genetic variants on the CYP2D6 gene were initially linked to worse survival rates, but subsequent studies found no association. Advanced statistical modeling suggests that genotyping errors may have contributed to these findings.
A recent study published in Nature Genetics reveals that Short Tandem Repeats (STRs) regulate gene expression and modulate disease traits. STRs, previously thought to be neutral or 'junk' DNA, were found to act like springs or knobs that fine-tune nearby gene expression.
New tools, MEGENA and SuperExactTest, help genomics researchers study hierarchical organization patterns in complex networks and compare large sets of data. These tools were published in PLoS Computational Biology and Scientific Reports.
The researchers have developed a new model that allows atomic-level simulations of DNA dynamics, achieving extraordinary accuracy in just 5 years of work. The data is stored in a public website with over 4 Terabytes of information.
A Chinese family with GJB2-associated hearing loss underwent an integrated reproductive strategy combining preimplantation genetic diagnosis and noninvasive prenatal testing. The approach resulted in a healthy baby, demonstrating its potential to prevent hereditary hearing loss globally.
A new study suggests using contingent screening could detect higher proportions of affected pregnancies, but parental choices limit its impact. Only 60% of women considered high-risk after standard first-trimester screening choose cfDNA testing, resulting in a limited effect on live births with trisomy 21.
A new paper device developed by scientists can rapidly and inexpensively diagnose hepatitis B and assess male fertility, making it a valuable tool for diagnosing people in low-income areas. The test, which costs less than $1 per device, can detect the hepatitis B virus in blood serum and determine sperm DNA integrity with high accuracy.
A recent study suggests that offering pregnant women a DNA test for Down's syndrome on the NHS could reduce the number of invasive tests and potentially save lives. The 'cell-free' DNA test has been found to be highly reliable and can be easily incorporated into routine clinical care within the NHS.
Researchers identified three genetic factors associated with peripheral artery disease, including variations on chromosome 13 that affect protein expression and blood vessel constriction. The study provides insight into the condition's causes and potential therapeutic targets.
A new UCL study has highlighted genes involved in schizophrenia and obesity, which could aid in developing improved prevention and treatment strategies. Variants in CRHR1 and SNORD115 were found to be more common in obese subjects, suggesting that disruptions in these genes may increase the risk of obesity.
A new series of assays explores how African smallholders can meet SDG2 by using biosciences to protect crops from diseases and pests, increase yields, and promote food security. The results provide recommendations for policymakers, educationalists, and those interested in smallholder agriculture.
A study of Inuit DNA reveals how their unique genetic makeup helps them thrive on a high-fat diet, with genes associated with fat metabolism, height and weight, and cholesterol playing key roles. The research suggests that the Inuit population has undergone significant adaptation to its extreme climate environment.
VIB and UGent scientists developed a new method to predict plant size by analyzing RNA molecules. This approach allows breeders to select disease-resistant plants earlier and accelerate breeding programs. The study's findings have the potential to improve agricultural productivity and address global food security challenges.
A recent study published in Nature Communications reveals that protein lamin A plays a crucial role in maintaining genomic structural stability by forming 'cross-links' that limit genetic material's freedom of movement within the nucleus. This creates a stable and linked polymeric structure promoting chromosomal integrity.
A team of researchers from Kobe University has developed a novel method to quantify the proportion of native and non-native genotypes in aquatic species. By analyzing environmental DNA (eDNA) from water samples, they were able to detect the presence of invasive non-native strains in rivers and reservoirs of western Japan.
Researchers discovered rare gene variants associated with a severe form of inflammatory bowel disease (IBD) that affects children under age five. The findings suggest that these genes play important roles in immune function and may be linked to primary immunodeficiency disorders.
The ESC recommends DNA analysis in post mortems of young sudden death victims to identify genetic causes and facilitate early diagnosis of relatives. This approach helps protect them through personalized approaches, such as lifestyle modifications and therapies.
A team of scientists has discovered that gene regulatory networks are inherently unstable, leading to aging and disease. Stabilizing these networks could lead to therapies against age-related diseases and increased lifespan.
Researchers at Chapman University have published two studies revealing widespread mislabeling of meat species in consumer commercial products, including ground meat and game meats. The studies identified significant discrepancies between product labels and actual species, highlighting the need for improved quality control measures.
A recent study published in PLOS Medicine suggests that a mother's genetic makeup plays a significant role in determining her baby's birth weight and length, rather than their own height. The research also found that taller mothers tend to deliver babies at earlier gestational ages.
A recent study published in PLOS ONE suggests that the Cape Parrot should be classified as a distinct species due to its genetically distinct markers. The research analyzed DNA samples from five Poicephalus species and found that the Cape Parrot shares common ancestry with other subspecies only at around 2 million years ago.
A large international study has identified genetic factors that modify the age of onset for Huntington's disease symptoms. The research, supported by the NIH, used precision medicine to analyze over 4,000 patients' DNA and found associations with genes involved in DNA repair and mitochondrial function.
ArroGen Group's Fingerprint Molecular Identification (FMID) technology analyzes chemical residues on fingerprints to reveal a suspect's gender, nicotine status, and exposure to explosives or drugs. This non-invasive process will empower law enforcement investigations with indisputable scientific evidence.
Researchers found that electrochemical disinfection creates numerous 'disinfection by-products', which can have unknown environmental impacts. Alternative methods like filtration or adsorption are recommended to prevent the transfer of harmful organisms.
Researchers have identified two gene variants on chromosomes 15 and 8 associated with earlier- or later-than-expected symptom onset in Huntington's disease patients. The findings suggest that these variants may influence the disease process prior to symptoms appear, offering new potential therapeutic strategies.
The Next Generation Science Standards (NGSS) show a modest improvement over state standards in genetics content, but fall short on key concepts like Mendelian inheritance. The study highlights the importance of interpreting standards consistently to ensure consistent implementation.
A study by UCLA and University of Pittsburgh researchers has isolated specific genetic differences between people with DiGeorge syndrome who have autism and those who have psychosis. The findings suggest a potential way to determine which child is at risk for which disorder, allowing for early intervention and improvement.
The discovery of Tetrapodophis amplectus, a four-legged snake fossil from Brazil's Crato Formation, supports the idea that snakes evolved from burrowing ancestors. The species' unique features, including short snout and flexible jaw, suggest it was adapted for grasping prey or clasp during mating.
Researchers developed a web tool to estimate the impact of genetic modification of mice, which can complicate biomedical research interpretation. The tool aids in explaining controversies and improving translation from lab animals to humans.
A portable 'paper machine' uses DNA analysis and detection to diagnose infectious diseases, genetic conditions, and cancer in resource-limited areas. The device costs less than $2 total and can detect as few as five cells of E. coli using ultraviolet light and a smartphone camera.
The Paul G. Allen Family Foundation has awarded $7 million to five research teams to investigate the fundamental causes of Alzheimer's disease. The projects will focus on uncovering the biological roots of the disease, including gene combinations, white matter damage, and pH levels.