Articles tagged with Exomes
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.
The study analyzed DNA from over 100,000 participants and found that nearly 2,000 carried at least one genetic variant linked to these diseases. The findings have led to life-changing discoveries and new insights into personalized medicine.
A Mayo Clinic study reveals that current genetic screening protocols fail to detect notable numbers of people carrying hereditary breast and ovarian cancer syndrome and Lynch syndrome mutations. The study identified 550 carriers of these mutations, with half being previously unaware of their risk.
A study published in Oncotarget has identified specific mutational and therapeutic landscapes of pancreatic cancer in the Russian population. By applying machine learning models to full exome individual data, researchers received personalized recommendations for targeted treatment options for each clinical case.
Researchers found that rare gene variants associated with inflammatory bowel disease (IBD) are less prevalent in African Americans, suggesting a different genetic contribution to the disease. The study highlights the importance of considering genetic diversity and admixture in IBD research.
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 propose a new method of clustering colorectal cancer patients using differential presence of exons (DPE) sequencing, which can provide valuable information on CRC progression and response to therapy. This analysis may also reduce costs and time required for staging CRC patients.
A massive exome-wide association study identifies rare gene coding variants strongly associated with BMI, including GPR75, which confers protection from obesity in mouse models. This finding provides potential therapeutic targets for treating obesity and demonstrates the power of massive-scale exome sequencing.
A new study from Baylor College of Medicine found that starting genetic analysis with RNA sequencing can increase diagnostic yield by up to 17% in rare genetic diseases. This approach allows for a more comprehensive understanding of the effects of noncoding changes and enhances confidence in diagnoses.
The UK Biobank has released a vast tranche of new genetic data linked to detailed health records, offering an unprecedented resource for understanding human biology and aiding therapeutic discovery. The data includes novel loss of function associations with large effects on disease risk, such as between PIEZO1 and varicose veins.
Researchers sequenced exomes of 60,706 individuals from diverse populations to identify 7.4 million genetic variants, providing unprecedented resolution into low-frequency protein-coding variants. The analysis found only nine pathogenic variants with strong disease associations.
UTHealth researchers have sequenced exomes of 8,554 individuals to identify naturally occurring mutations that inactivate certain genes. The study found eight new relationships between genes and diseases, including a link between TXNDC5 and Type 1 Diabetes progression.
Exome sequencing may miss a high proportion of clinically relevant regions in key disease-causing genes, raising concerns about patient diagnosis. The study's findings highlight the need for improved methods to provide reliable coverage of these genes.
Researchers identified a defective gene responsible for isolated congenital asplenia (ICA), a rare disorder characterized by the absence of the spleen. The RPSA gene mutation affects approximately 50% of patients with ICA, leading to a lack of splenic tissue.
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 ...
Researchers successfully used exome sequencing to diagnose genetic diseases in patients with intellectual disability, blindness, deafness, movement disorders, cancer, and OXPHOS diseases. The technique was able to identify causative mutations in up to 20% of cases, offering a more efficient alternative to traditional Sanger sequencing.
Two Ontario research facilities, The Centre for Applied Genomics and StemCore Laboratories, have been awarded $10,000 each to develop leading-edge technologies in Next Generation Sequencing (NGS) methods. Dr. Stephen Scherer will compare genome enrichment and exome capture kits, while Pearl Campbell will optimize ChIP-Seq methods.
Researchers discover genetic alterations in the MLL2 gene that account for most cases of Kabuki syndrome, a rare disorder with multiple birth defects and mental retardation. The new DNA sequencing strategy quickly identifies the gene variants responsible for the condition.
The new exome array includes 282,363 target regions representing 240,402 exonic regions, splice sites, proximal promoter regions and microRNAs for comprehensive analysis. This development fills the gap of missing medically important genes in current exome capturing systems.
Researchers developed a novel genome-analysis strategy to rapidly discover possible gene-disease links, enabling the search for disease-causing genes in unrelated individuals with the same condition. The approach uses targeted analysis and newer technology to identify candidate genes for Mendelian disorders, offering a promising soluti...
Researchers sequenced exomes of 12 people to detect rare genetic variants causing diseases. The study found that sequencing exomes can be used to uncover genes contributing to common conditions like diabetes and cancer, enabling personalized medicine.