Articles tagged with Genetic Resources
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 method for generating polygenic risk scores (PRS) has been developed to predict disease risk across populations, reducing bias and improving accuracy. The PRS-CSx tool integrates data from multiple populations and accounts for genetic similarities and differences between them.
A National Jewish Health-led study found that over a third of identified genetic risk factors for asthma are associated with altered function of airway epithelium. The research discovered genetic changes in genes related to mucus production and type 2 inflammatory pathways, increasing asthma risk.
Carly Peterson, a genetic counseling graduate student, received the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Her platform presentation explored parenting stress in raising children with sex chromosome aneuploidies, using data from the eXtraordinarY Babies Study.
A recent viewpoint article highlights the need for open access to digital sequence information (DSI) to facilitate real-time responses to global crises. The authors propose community self-governance as a solution to enable international collaboration, improve benefit-sharing mechanisms, and promote equitable sharing of DSI benefits.
The Colorado potato beetle has evolved rapid resistance to insecticides by leveraging its existing genetic diversity, allowing different populations to quickly adapt and overcome new chemicals. This wealth of diversity will likely make the pest difficult to control in the future.
Using ancient and historical DNA can assess population genetic patterns and inform conservation actions. The study reveals that a/hDNA can be compared with contemporary data to set baselines for intra-species genetic diversity and estimate changes in effective population size.
A cloud-based repository called CellRepo has been launched to track and organize digital data from engineered microorganisms. The database uses cell barcodes to monitor and track organisms, enabling faster tracing of lab origins and design details.
An international research team found that the use of digital sequence information is more complex than a one-way street, with many countries providing access to genetic resources and benefiting from data sharing
Scientists have developed a new method using CRISPR-Cas9 to target specific fat cells, reducing the time and cost of genetic discovery in obesity research. The technique allows researchers to study genes in brown adipose tissue, which plays a crucial role in regulating body temperature.
The article highlights the importance of access and equity in sharing biodiversity data, with scientists warning that unequal distribution of genetic data and benefits is hindering innovation and conservation efforts. The CBD and Plant Treaty need reform to address this issue.
Children with autism spectrum disorder should be screened for abnormally high or low cholesterol levels, according to physicians. Research found reduced HDL-C levels in individuals with ASD, indicating a risk factor for cardiovascular disease.
A large study comparing the brains of left-handers and right-handers found significant differences in brain asymmetry across ten regions. The research also discovered a link between genetic influences on handedness and brain asymmetries in language-related regions.
An international team sequenced 3,366 chickpea lines from 60 countries, identifying 29,870 genes, including 1,582 novel ones. The study provides a complete picture of genetic variation within chickpea and validated roadmap for improvement.
The NIH will renew funding for the Clinical Genome (ClinGen) resource, which collects and archives information on clinically relevant genes and genomic variants. This expansion aims to improve the effectiveness, transparency, and validity of clinical genomics research.
Researchers at KU Leuven and the Alliance of Bioversity International have developed a method to multiply coconut trees faster and store them more efficiently in gene banks. This technique allows for the preservation of coconut shoots for eternity through cryopreservation, ensuring the long-term conservation of genetic diversity.
Researchers at Baylor College of Medicine have developed a novel technology that enables scientists to track genetic manipulations in fruit flies more efficiently. The system uses drug-based markers for selection or counter-selection of genes, reducing the need for manual screening and increasing productivity by at least 10 times.
Researchers at OIST and Tokyo University of Marine Science and Technology have developed a genetic resource for the kuruma shrimp, a species prone to white spot disease. The genome sequence has identified genes related to disease resistance, which could be used to establish a disease-resistant line of shrimp.
Researchers have uncovered thousands of new regulatory regions that control disease-linked genes, providing a significant step forward for genomics-driven precision medicine. This new resource, available worldwide, could help identify markers revealing which patients will benefit most from specific treatments.
The Virtual NBSTRN Newborn Screening Summit brought together innovators to expand newborn screening research. The event showcased advancements in technology, advocacy, and clinical care for genetic disease detection, highlighting the importance of collaborations between researchers, healthcare professionals, families, and advocacy groups.
Researchers sequenced DNA from plant specimens collected nearly 50 years ago to analyze genetic diversity and its response to climate change. The study found that several species restricted to the Guadalupe Mountains had surprisingly high amounts of genetic diversity, which could help them adapt to changing conditions.
Researchers in Japan have created a method to preserve mouse sperm by freeze-drying it on a plastic sheet, enabling easy transportation via postcard. The 'sperm book' stored at -30°C, can hold thousands of sperm samples, and the mailing method has shown promising results with high offspring rates.
Researchers identified a genetic mutation in nonhuman primates that closely resembles Pelizaeus-Merzbacher disease, a rare and progressive disorder affecting the central nervous system. The discovery was made possible by a massive genomic database built at OHSU's Oregon National Primate Research Center.
UofL researchers advocate for greater diversity in immunogenomics studies to better understand disease susceptibility and develop tailored treatments. The team aims to include a broader range of populations in their research to improve patient care and address health disparities.
A team of scientists from China has sequenced the high-quality genome of Chinese hazelnut, identifying genes related to oil biosynthesis and stress resistance. The study provides valuable resources for molecular breeding and genetic improvement of hazelnut crops worldwide.
A new collection of genetic data helps breeders understand yam characteristics, reducing the need for trial and error. The catalog provides valuable information on physical traits, such as stem number and tuber weight, to inform breeding decisions.
Clinical genetics services are struggling to cope with the influx of direct-to-consumer (DTC) genetic testing referrals, with many GPs ill-equipped to interpret results. The lack of resources and funding is exacerbating the issue, with only 10% of DTC test results validated.
The interface of genomic information with the electronic health record emphasizes the importance of patient autonomy, access, and privacy in integrating genomic data into EHRs. The document provides guidelines on data storage, access, and usage, aiming to optimize benefits while minimizing harm, and recommends standards for interoperab...
The National Institutes of Health has renewed funding for UC Davis's Mutant Mouse Resource and Research Center, providing $6.7 million over five years. The center will acquire new mouse strains and develop novel models to support biomedical researchers.
The EU's new AGENT research project aims to establish a global network of actively cooperating gene banks and convert them into digital resource centers. The project seeks to standardize gene bank management and verification, making plant genetic resources more accessible to researchers and breeders worldwide.
The American College of Medical Genetics and Genomics has released an updated technical standard for CFTR variant testing, incorporating revised information about cystic fibrosis and the CFTR gene. The new guidelines aim to improve the accuracy and efficiency of genetic screening and diagnosis.
The National Gene Vector Biorepository (NGVB) provides valuable resources to gene therapy investigators, including 93 unique reagents and a searchable database of animal safety studies. These resources aim to decrease compliance risks, address clinical trial funding periods, and reduce costs.
A new computational tool, Candidate Driver Analysis (CaDrA), has been developed to identify combinations of factors causing specific diseases. The tool recognizes the complexity of diseases and can discover novel features associated with invasive phenotypes.
The American College of Medical Genetics and Genomics (ACMG) has released new guidelines to help providers develop policies/procedures for re contacting patients after revising genomic test results. The guidelines aim to address the complex questions surrounding patient re contact, including legal, ethical, and practical issues.
A comprehensive genome-wide map of RNA splicing variation in the aging brain has been created, offering new insights into genetic mechanisms underlying Alzheimer's disease progression. The study identified specific RNA splicing events linked to the disease and suggests a potential therapeutic strategy using antisense oligonucleotides.
The American College of Medical Genetics and Genomics has received a five-year, $13 million contract renewal to continue its work in newborn screening. The Newborn Screening Translational Research Network (NBSTRN) will support groundbreaking research and build upon its decade-long efforts.
The importance of plant genetic resources cannot be overstated, as they provide the building blocks for crop breeding and research. Crop wild relatives, in particular, offer valuable traits like drought tolerance that can help ensure global food security.
A single transnational corporation has registered 47% of marine genetic sequences, while entities in only 10 countries account for 98% of patents. The study highlights the need for a legal framework to regulate access and use of marine genetic resources beyond national jurisdiction.
The MyGene2 platform connects patients, clinicians, and researchers to share genetic data, phenotypes, and experiences. Over 1,000 profiles have been created, enabling matches among patients with the same disease and facilitating low-cost exome sequencing.
Scientists have mapped genes turned on and off in sheep tissues, shedding light on immunity and meat quality. The findings provide a major step towards understanding how genetic information influences physical traits.
A comprehensive study has identified 33 million genetic variants in 1,000 Swedish individuals, with 10 million being novel. The data will aid researchers and clinicians in understanding the association between genetic variants and diseases.
The Bell Museum has launched the Minnesota Biodiversity Atlas, providing public access to hundreds of thousands of plant and animal specimens. The Atlas serves critical needs like guiding field surveys, conservation planning, and enabling research on biodiversity in Minnesota.
A massive research project has revealed widespread structural variation in the human genome, including copy number variants and insertions/deletions of DNA segments. The findings underscore the significant role of these variations in determining gene expression and disease risk.
ClinGen, a comprehensive program, aims to evaluate the clinical relevance of genetic variants for precision medicine. The database will facilitate data sharing among laboratories and clinicians, improving understanding of genetic variation's role in human health and disease.
The study identified nearly 3,000 genetic markers that will help researchers investigate the genetic variation within and between different species. The new data will enable scientists to uncover why certain legume crops succeed where others fail.
Researchers analyzed whole-genome sequences of 17 supercentenarians, but found no rare protein-altering variants significantly associated with extreme longevity. One individual did carry a variant associated with a heart condition, which had little impact on their health.
Researchers analyzed 360 tomato varieties and wild strains to understand the impact of domestication and breeding on cultivated tomatoes. The study identified genes responsible for larger fruit size and increased disease resistance, but also found areas of genetic uniformity that could be addressed in future breeding.
Researchers have established a comprehensive catalog of the human gut microbial genes, with over 9.8 million genes available for global researchers to explore. The study highlights differences in nutrient metabolism and xenobiotic detoxification between Chinese and Danish adults, as well as enrichment in antibiotic resistance genes.
The State of the World's Forest Genetic Resources report highlights the importance of tree genetic resources for food security, poverty reduction, and sustainable development. The report calls for establishment and strengthening of information systems to support decision-making on forest resource management.
A three-day meeting of international experts highlighted the need for countries to develop relevant expertise in assessing biodiversity and ecosystem services. The UN's new IPBES platform aims to strengthen national capacities in this area, crucial for informed policy decisions.
Researchers from Nanjing Normal University and BGI report their original genomic research on the Yangtze River dolphin, providing valuable resources for conservation. The study reveals genetic and evolutionary adaptations, including accelerated evolution of genes involved in oxygen carrying and sensing.
The journal provides a series of research articles detailing challenges and solutions for integrating genomic data into EHR. Studies discuss the need for patient involvement in decisions about their genomic information, as well as the potential of Genomic Decision Support to improve care.
A large new resource of mouse lines has been created to study human diseases, revealing new functions for well-known genes and unexpected associations with traits like body weight. The project provides a wealth of freely available clinical and biological information to aid in the development of new therapies.
The world's seed banks hold a vast wealth of genetic material that could help feed the future. A massive genetic sequencing effort and broad phenotyping initiative are proposed to characterize the resources needed to meet growing food demands. The estimated cost is about $200 million annually.
The American College of Medical Genetics and Genomics has released a policy statement on noninvasive prenatal screening for fetal aneuploidy, highlighting its advantages and limitations. The statement recommends following up positive results with invasive diagnostic tests to avoid patient harm.
Caleb P. Bupp, a medical geneticist, received the 2013 ACMG Foundation/Signature Genomics Travel Award for his presentation on twenty years of neural tube defect surveillance and prevention in South Carolina. The award recognizes young researchers in the field of medical genetics and genomics.
The American College of Medical Genetics and Genomics has released a report on incidental findings in clinical exome and genome sequencing. The report provides guidelines for laboratories to return incidental genetic findings to doctors ordering the tests, who will then manage the information with patients. This is expected to benefit ...
A study on Arabidopsis thaliana reveals its genetic diversity can help crops adapt to environmental stresses. Dr. Sarah Assmann explores the plant's ability to tolerate climate change, drought, and poor soils.
The Nowgen Schools Genomics Programme provides free, multi-media resources to update the study of modern genetics in schools and colleges. The resources aim to bring cutting-edge research into the classroom, helping teachers and students explore the impact and potential of modern genetics.
Researchers have compiled the largest human genetic variation catalog, involving over 1,000 individuals from 14 ethnic groups. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide.
The UCSF project provides a large publicly available resource to help researchers determine the importance of genes in mice. The resource includes 162 gene-disrupting vectors, 64 new stem cell lines, and 46 new strains of mice with missing microRNAs.