24 papers · ranked by Valyu relevance
Authors not listed
Genetics is the study of genes-the heritable information that contains the codes for proteins and other molecules which form and maintain an organism’s structure and function. In most organisms, these genes are found in strands of deoxyribonucleic acid (DNA) molecules. The specific structure of the DNA (described…
Nina J. Beelen, Jitendra Vohra, Job A.J. Verdonschot
Genetic counselling and testing is a fast growing field in modern medicine. Genetic analysis can aid in the diagnosis, treatment, management and prevention of (genetic) diseases in patients. This review provides an overview of the fundamental principles of genetics from a clinical perspective, focusing on the practical…
Gabriel Adelman Cipolla, Marcia Holsbach Beltrame
Genetics is a fast-growing and exciting field that ultimately touches everyone's life. The book Genetics for Dummies provides, in easy-to-understand language, an overview of the field of genetics and its current applications. This book is meant to help not only undergraduate students enrolled in genetics courses, but…
Rita Dias Pereira, Pietro Biroli, T. J. Galama, Stephanie von Hinke + 3 more
'Hans van Kippersluis' 'Cornelius A. Rietveld' 'Kevin Thom'] Nature (one's genes) and nurture (one's environment) jointly contribute to the formation and evolution of health and human capital over the life cycle. This complex interplay between genes and environment can be estimated and quantified using genetic…
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…
Aoife McLysaght
Mendel, a genius experimentalist, meticulously uncovered the genetic basis of heredity in work that transformed the science of biology. But does the alluring simplicity of Mendel’s laws sometimes obscure the true complexity of genetics?
Rosemary J. Redfield, Cheryl A. Kerfeld
Our students will go out into an astonishing new world of engineered genes and personal genomics, so why is the standard genetics syllabus stuck in the 1950s?
Gholson J. Lyon, Jason O’Rawe
There are ~12 billion nucleotides in every cell of the human body, and there are ~25–100 trillion cells in each human body. Given somatic mosaicism, epigenetic changes and environmental differences, no two human beings are the same, particularly as there are only ~7 billion people on the planet. One of the next great…
Alex Diaz-Papkovich, Abigail Kuntzleman, Sophia C. Davis, Sohini Ramachandran
Genetics research frequently intersects with ethnicity, nationality, and race, making it uniquely vulnerable to misrepresentation. Yet, 25 years after the initial sequencing of the human genome, there is little understanding of how human genetics research exists in the public-facing information ecosystem. We analyze…
Pier Francesco Palamara
Recent improvements in high-throughput genotyping and sequencing technologies have afforded the collection of massive, genome-wide datasets of DNA information from hundreds of thousands of individuals. These datasets, in turn, provide unprecedented opportunities to reconstruct the history of human populations and…
Rajiv Saini, Santosh Saini, Gagan Saini
The accelerating development of biochemical and DNA-based diagnostic tests for human genetic conditions in the last decade has engendered a revolution in genetic diagnosis. Both genetic testing and genetic screening involve the same testing processes to examine an individual’s chromosomes, DNA, or the biochemical…
J. Peter W. Young
Genes have been in the scientific vocabulary for a hundred years. The term "gene" was proposed by the Danish plant scientist Wilhelm Johannsen in the first decade of the 20th century. For Johannsen, the gene remained an abstract concept, "free of any hypothesis" [1], but others were already pointing to chromosomes as…
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…
Ewan Birney, Michael Inouye, Jennifer Raff, Adam Rutherford + 1 more
'Aylwyn Scally'] The language commonly used in human genetics can inadvertently pose problems for multiple reasons. Terms like 'ancestry', 'ethnicity', and other ways of grouping people can have complex, often poorly understood, or multiple meanings within the various fields of genetics, between different domains of…
Matthew S Ackerman, Parul Johri, Ken Spitze, Sen Xu + 3 more
Population structure can be described by genotypic correlation coefficients between groups of individuals, the most basic of which are the pair-wise relatedness coefficients between any two individuals. There are nine pair-wise relatedness coefficients in the most general model, and we show that these can be reduced to…
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…
Mauricio Orantes-Bonilla, Manar Makhoul, HueyTyng Lee, Harmeet Singh Chawla + 5 more
In F1 offspring from a cross between two Brassica napus plants of synthetic and natural origin, we demonstrate the occurrence of novel transgenerational structural genome variants. Long read sequencing in twelve F1 sister plants revealed five large-scale structural rearrangements where both parents carried different…
Melissa K. Drown, Marjorie F. Oleksiak, Douglas L. Crawford
Evolutionary processes driving physiological trait variation depend on the underlying genomic mechanisms. Evolution of these mechanisms depends on whether traits are genetically complex (involving many genes) and how gene expression that impact the traits is converted to phenotype. Yet, genomic mechanisms that impact…
Arbel Harpak, Molly Przeworski
The selection pressures that have shaped the evolution of complex traits in humans remain largely unknown, and in some contexts highly contentious, perhaps above all where they concern mean trait differences among groups. To date, the discussion has focused on whether such group differences have any genetic basis, and…
Brianna Greenstein, Danielle Elsey, Geoffrey Hutchison
Genetic algorithms (GAs) are a powerful tool to search large chemical spaces for inverse molecular design. However, GAs have multiple hyperparameters that have not been thoroughly investigated for chemical space searches. In this work, we examine the general effects of a number of hyperparameters, such as population…
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…
liu wenzhong, li hualan
The high mortality of COVID-19 is related to poor antigen presentation and lymphopenia. In this present study, domain search results showed that many proteins of the SARS-COV-2 virus had MHC-like domains, which were similar to decoys for the human immune system. MHC-like structures could bind to MHC receptors of immune…
Rumiana Tenchov, Janet Sasso, Xinmei Wang, Qiongqiong Angela Zhou
Aging is a dynamic, time-dependent process characterized by a gradual accumulation of cell damage. Continual functional decline in the intrinsic ability of living organisms to accurately regulate homeostasis leads to increased susceptibility and vulnerability to diseases. Anti-aging research has a long history…
Authors not listed
Assisted reproductive technologies (ART) have revolutionized the field of reproductive medicine, offering hope to millions of individuals and couples facing fertility problems. From artificial insemination to cutting-edge gene editing techniques, ART enhances reproductive efficiency, transforming the landscape of…