25 papers · ranked by Valyu relevance
Mauno Vihinen, Hirokazu Takahashi
Genetic variation has been widely covered in literature, however, not from the perspective of an individual in any species. Here, a synthesis of genetic concepts and variations relevant for individual genetic constitution is provided. All the different levels of genetic information and variation are covered, ranging…
Fabio Scarpa, Marco Casu, Daria Sanna
Genetic variation, evolution, and conservation are three strictly interconnected words, but none of them exist without the others, unless wanting to waive a complete and operational sense. These terms are considered the key concepts in evolutionary biology and represent the essence of life on our planet. It must be…
Yoichiro KAMATANI, Yusuke NAKAMURA
As we look so different, our genomic sequences vary enormously. The differences in our genome, genetic variations, have played very significant roles in medical research and have contributed to improvement of medical managements in the last 2-3 decades. Genetic variations include germline variations, somatic mutations…
Camillo Thomas Gualtieri
Twentieth-century genetics was hard put to explain the irregular behavior of neuropsychiatric disorders. Autism and schizophrenia defy a principle of natural selection; they are highly heritable but associated with low reproductive success. Nevertheless, they persist. The genetic origins of such conditions are…
Andrea Iglesias-Ramas, Samuele Pio Lipani, Rosalind J. Allen
Population genetics lies at the heart of evolutionary theory. This topic forms part of many biological science curricula but is rarely taught to physics students. Since physicists are becoming increasingly interested in biological evolution, we aim to provide a brief introduction to population genetics, written for…
Nadav Brandes, Omer Weissbrod, Michal Linial
Genetic studies of human traits have revolutionized our understanding of the variation between individuals, and opened the door for numerous breakthroughs in biology, medicine and other scientific fields. And yet, the ultimate promise of this area of research is still not fully realized. In this review, we highlight…
Douglas C. Wallace
biological complexity and the missing genetic variation of common diseases Mitochondria in Evolution & Disease Authors: ['Douglas C. Wallace'] Two major inconsistencies exist in the current neo-Darwinian evolutionary theory that random chromosomal mutations acted on by natural selection generate new species. First…
Christina L. Miller, Derek Sun, Lauren H. Thornton, Katrina McGuigan
The contribution of new mutations to phenotypic variation, and the consequences of this variation for individual fitness, are fundamental concepts for understanding genetic variation and adaptation. Here, we investigated how mutation influenced variation in a complex trait in zebrafish, Danio rerio. Typical of many…
Paco Majic, Malvika Srivastava, Justin Crocker
Mutation rates drive the pace and potential of evolutionary change. However, to better understand the evolutionary implications of mutation rates, there is a need to uncover the causes of their diversfification. In multicellular organisms, all mutations first arise in a single cell in a developmental context. Whether a…
Julien F. Ayroles, Sean M. Buchanan, Chelsea Jenney, Kyobi Skutt-Kakaria + 4 more
Variability is ubiquitous in nature and a fundamental feature of complex systems. Few studies, however, have investigated variance itself as a trait under genetic control. By focusing primarily on trait means and ignoring the effect of alternative alleles on trait variability, we may be missing an important axis of…
Rasmus Grønfeldt Winther
Richard C. Lewontin is arguably the most influential evolutionary biologist of the second half of the 20th century. In this chapter, I provide two windows on his influential 1972 article "The Apportionment of Human Diversity": First, I show how the fourteen publications that he cites influenced him and framed his…
Emma L. Berdan, Alexandre Blanckaert, Tanja Slotte, Alexander Suh + 2 more
'Anja M. Westram' 'Inês Fragata'] - 1. Department of Ecology, Environment and Plant Sciences, Science for Life Laboratory, Stockholm University, Stockholm, Sweden SE-10691 - 2. Laboratory of Genetics, University of Wisconsin-Madison, Madison, WI 53706 - 3. School of Biological Sciences Organisms and the Environment…
Dalton Conley, Rebecca Johnson, Ben Domingue, Christopher Dawes + 2 more
The propensity of a trait to vary within a population may have evolutionary, ecological, or clinical significance. In the present study we deploy sibling models to offer a novel and unbiased way to ascertain loci associated with the extent to which phenotypes vary (variance-controlling quantitative trait loci, or…
Neil S. Greenspan, Hui Li
The role of genetics in determining measured differences in mean IQ between putative racial groups has been a focus of intense discussion and disagreement for more than 50 years. While the last several decades of research have definitively demonstrated that genetic variation can influence measures of cognitive…
Ying Chen Eyre‐Walker, Adam Eyre‐Walker
We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease. We predict that the mutation rate and its genetic diversity should be higher in genes associated with disease, unless all genes that could cause disease have…
Nikita Abramovs, Andrew Brass, May Tassabehji
Hardy-Weinberg Equilibrium (HWE) is used to estimate the number of homozygous and heterozygous variant carriers based on its allele frequency in populations that are not evolving. Previously, deviation from HWE in large population databases were investigated to detect genotyping errors, which can result in extreme…
Marina Gorostiola González, Olivier J. M. Béquignon, Emma Manners, Anna Gaulton + 7 more
Bioactivity prediction is essential in computational drug discovery, particularly within virtual screening campaigns. Despite advancements in model architectures and features, the sparsity and quality of relevant training data remain a major bottleneck. Notably, genetic variance annotation, crucial for understanding…
Authors not listed
RNA droplets assembled from co-transcriptionally folded nanostructures have recently emerged as a promising platform for constructing protocells and minimal synthetic cell models. In these systems, a custom-designed DNA template encodes an RNA nanostar, which is produced by transcription and self-assembles into…
Thomas A. Sasani, Brent S. Pedersen, Ziyue Gao, Lisa Baird + 3 more
The number of de novo mutations (DNMs) found in an offspring’s genome increases with both paternal and maternal age. But does the rate of mutation accumulation in human gametes differ across families? Using sequencing data from 33 large, three-generation CEPH families, we observed significant variability in parental…
Benjamin King, Max Winokan, Paul Stevenson, Jim Al-Khalili + 2 more
The adenine-thymine tautomer (A-T) has previously been discounted as a spontaneous mutagenesis mechanism due to the energetic instability of the tautomeric configuration. We study the stability of A-T while the nucleobases undergo DNA strand separation. Our calculations indicate an increase in the stability of A-T as…
Kenji Okubo, Kunihiko Kaneko
Heterosis describes the phenomenon whereby a hybrid population has higher fitness than an inbred population, and has previously been explained by either Mendelian dominance or overdominance, where it is generally assumed that one gene controls one trait. How-ever, recent studies have demonstrated that genes interact…
Ken Nishikawa, Akira R. Kinjo
The Weismann barrier, or the impossibility of inheritance of acquired traits, comprises a foundation of modern biology, and it has been a major obstacle in establishing the connection between evolution and ontogenesis. We propose the cooperative model based on the assumption that evolution is achieved by a cooperation…
Rumiana Tenchov, Janet Sasso, Qiongqiong Angela Zhou
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline, memory loss, and impaired daily functioning. The pathology of AD is marked by the accumulation of amyloid-beta plaques and tau protein tangles in brain, along with neuroinflammation and synaptic dysfunction. Genetic…
Authors not listed
Finding the most stable adsorption geometry of a flexible molecule on a catalytic surface remains a key challenge due to the high dimensionality and ruggedness of the potential energy surface. We present a Gradient-Enhanced Genetic Algorithm (GE-GA) for the global optimization of adsorbate–surface configurations…
Alice Brankin, Philip Fowler
Multi-drug resistant Mycobacterium tuberculosis requires a complex antibiotic treatment program and poses a major threat to tuberculosis (TB) treatment outcomes. Resistance is mostly conferred by chromosomal single nucleotide polymorphisms, many of which are well characterized and catalogued. However, not all mutations…