Articles tagged with Segmental Duplication
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 provides a comprehensive reference for six ape species, including siamang, Sumatran orangutan, gorilla, bonobo, and chimpanzee. The ape genomes offer new insights into human and ape evolution, genetic differences among species, and potential therapeutic applications.
The study has shed light on how cats evolved into different species and how genetic changes relate to survival abilities like smell detection. It also revealed that cat genomes tend to have fewer complex genetic variations than other mammal groups, such as primates.
The study reveals extensive genome size variation among closely related algal strains, with a more than twofold range of approximately 450-1,100 megabases. Genome-wide copy number variation, rather than duplication or proliferation, drives this dynamics, suggesting rapid changes in genome size through frequent duplications and deletions.
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 completed human genome assembly has revealed new insights into human evolution and diseases. Researchers found that highly repetitive regions, including segmental duplications, contain genes critical for brain development and function. These findings shed light on the genetic factors that make humans distinct from other primates.
Researchers found duplications of noncoding DNA that may explain genetic contributions to human disease and evolution. These duplications, which include regulatory sequences, may have impacted the expression of genes nearby or elsewhere in the genome.
A newly designed computational method has enabled accurate counting of duplicated genome sequences, revealing key findings on gene copy-number variation and its association with diseases. The study's results have significant implications for understanding human genetic variation and its impact on health.
Researchers found that large-scale segmental duplications account for 2.7% of the human genome, while single base-pair changes make up only 1.2%. These duplication events have altered gene expression, with some segments implicated in human developmental disorders such as spinal muscular atrophy and Prader-Willi syndrome.
A recent study has mapped the chimpanzee genome onto the human genome sequence, revealing a 2.7% difference in segmental duplications. The researchers found that around a third of duplications are unique to humans, while some segments show 'hyperexpansions' with up to 400 copies in chimpanzees.
The International Human Genome Sequencing Consortium has completed the human genome sequence, confirming 19,599 protein-coding genes and identifying 2,188 potential protein-coding genes. The finished sequence covers over 99% of the euchromatic portion with an error rate of 1 base per 100,000 base pairs.
The Arabidopsis thaliana plant's genetic evidence suggests it emerged between 50 and 200 million years ago. Researchers used computational tools to analyze its genome, finding duplicated chromosome segments that date back to ancient polyploid events, providing insights into the evolution of agricultural crops.