Top Research Papers on Genetics PDF

The use of genetic algorithms in many fields is demonstrated in this study along with how they may be integrated with a number of other approaches to arrive at the best possible solution and speed up information retrieval systems.

The authors perform genome-wide association studies and characterize pan-cancer heritability and pleiotropy in individuals of European ancestry across 18 cancer types from two large cohorts and demonstrate widespread pleiotropic variants.

It is demonstrated that no simple general relationship exists between neutral genetic diversity and the risk of species extinction, and a better understanding of the properties of functional genetic diversity, demographic history, and ecological relationships is necessary for developing and implementing effective conservation genetic strategies.

The role of functional (impacting tumour phenotype) and non-functional intra-tumour heterogeneity (ITH) in cancer evolution is discussed, highlighting the importance of considering genetic andnon-genetic factors and their impact on patient outcomes.

This work integrated the two largest public independent CRISPR-Cas9 screens performed to date by assessing, comparing, and selecting methods for correcting biases due to heterogeneous single-guide RNA efficiency, gene-independent responses to CRISpr- Cas9 targeting originated from copy number alterations, and experimental batch effects.

Bread wheat (Triticum aestivum L.) is a major crop that feeds 40% of the world's population. Over the past several decades, advances in genomics have led to tremendous achievements in understanding the origin and domestication of wheat, and the genetic basis of agronomically important traits, which promote the breeding of elite varieties. In this review, we focus on progress that has been made in genomic research and genetic improvement of traits such as grain yield, end-use traits, flowering regulation, nutrient use efficiency, and biotic and abiotic stress responses, and various breeding str...

1. Genetics and Ecotoxicology - Insights from the Interface Valery Forbes 2. The Evolution of Heavy Metal Tolerance in Plants: Adpatations, Limits, and Costs A. Johnathan Forbes 3. Mercury Tolerance, Population Effects, and Population Genetics in the Mummichog, Fundulus heteroclitus Judith Weis, Nicolay Mugue, Peddrick Weis 4. Chemical-Induced Changes in the Genetic Structure of Populations - Effects on Allozymes Robert Gillespie and Sheldon Guttman 5. Adaptation to Metals in the Midge, Chironomus riparius - a Case Study in the River Dommel Jaap Postma and Dick Groenendijk 6. The Influence of ...

This review summarises recent progress in elucidating the genetic basis of psoriasis, particularly through large genome-wide association studies, and illustrates the power of genetic analyses for disease stratification.

Here, it is synthesized how considering the effects of these adaptive loci in the context of cellular environments, genomes, organisms, and populations has provided new insights to the genetic architecture of adaptation.

Interestingly, approximately 37% of candidate genes are shared in human male and female gonadal failure, implying that genetic counselling should be extended also to female family members of NOA patients, and of potential clinical relevance for future gene panel-based screening.

The progress in the field of epilepsy genetics is reviewed and molecular discoveries in the most important epilepsy groups are highlighted, including those that have been long considered to have a nongenetic cause.

Evaluation of whether the specific type of genetic predisposition to hypertriglyceridemia affects medical decisions or long-term outcomes and searching for other genetic contributors, including the role of genome-wide polygenic scores, novel genes, non-linear gene-gene or gene-environment interactions, and non-genomic mechanisms including epigenetics and mitochondrial DNA are considered.

Osteoarthritis genetics has been transformed in the past decade through the application of large-scale genome-wide association scans, revealing fascinating fundamental insights into osteoarth arthritis and can expose options for translational intervention.

There is still a gap between genetics services needed and workforce capacity and a concerted effort is required to increase the number of clinical geneticists and enhance interdisciplinary teamwork to meet increasing patient needs.

It is argued that understanding mechanisms leading to species decline and community impact is a key to successful implementation of these strategies and advocated an approach where short‐ and long‐term strategies are integrated into a decision framework that also considers nongenetic aspects of management.

Cardiometabolic multimorbidity was independently associated with the risk of dementia and extensive brain imaging differences to a greater extent than was genetic risk, and targeting cardiometabolism with a low genetic risk might help to reduce therisk of dementia.

Abstract Summary LocusZoom.js is a JavaScript library for creating interactive web-based visualizations of genetic association study results. It can display one or more traits in the context of relevant biological data (such as gene models and other genomic annotation), and allows interactive refinement of analysis models (by selecting linkage disequilibrium reference panels, identifying sets of likely causal variants, or comparisons to the GWAS catalog). It can be embedded in web pages to enable data sharing and exploration. Views can be customized and extended to display other data types suc...

How combining genetics with plasma proteomics is providing notable insights into human disease is described, and the challenges faced by currently available technologies are highlighted and perspectives relevant to their future application in large-scale biobank studies are provided.

A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

Evidence is observed that height is likely a positive causal risk factor for atrial fibrillation, and whether biological pathways involved in height may offer new targets for treatment of atrialfibrillation.

The conclusion is that there are many advantages to using these techniques and lots of potential interactions to other evolutionary algorithms; as well, the reader can find this article useful for practical research, graduate teaching, and as a pedagogical guide to this exciting domain.

The latest efforts and advances in identifying and decoding asthma susceptibility are focused on epigenetics, heritable characteristics that affect gene expression without altering DNA sequence, with DNA methylation being the most described mechanism.

When histone proteins in nucleosomes are modified, the cell’s DNA replication and transcription machinery can either more easily or less easily access the DNA, thus changing gene expression patterns.

This review identifies the most significant genetic variants associated with RA susceptibility to date, with particular focus on the contribution of the HLA class II genes across different ethnic groups.

As the understanding of the genetics of BD improves, there is growing optimism that some clear biological pathways will emerge, providing a basis for future studies aimed at molecular diagnosis and novel therapeutics.

There is a strong protective effect for the risk of autoantibody-positive RA associated with HLA-DRB1*13 alleles, and understanding of the specific mechanisms in the development of increased risk of RA for these variations is work in progress.

The ability to reprogramme cellular translation and genomes to produce non-canonical biopolymers has wide-ranging applications, including in therapeutics, but has yet to be fully realized.

Some of the key findings that are shaping current understanding of autism and what these discoveries mean for clinicians are considered.

Progress to date including dissection of heritability, discovery of vitiligo susceptibility loci through candidate gene, genomewide linkage, andgenomewide association studies, relationships to other autoimmune diseases, polygenic architecture of vitILigo risk, vitiliga triggering, and disease onset are summarized and suggestions for future directions are provided.

More recent discoveries in genetic and epigenetic studies of inflammatory bowel diseases may potentially be of relevance in daily clinical practice.

The claim that the history of Isle Royale wolves represents likely outcomes of genetic rescues using immigrants from larger source populations is invalid, and the simulations' conclusions conflict profoundly with those of >120 meta-analysed real datasets, and do not overturn current empirically validated recommendations to maximize genetic diversity in the target population.

The results highlight nicotine dependence-specific loci, emphasizing the FTND as a composite phenotype that expands genetic knowledge of smoking, and highlight five genome-wide significant loci.

It is reported that CC strains vary dramatically in their susceptibility to infection and produce qualitatively distinct immune states, and the large fraction of the pathogen’s genome that has been maintained to ensure fitness in a diverse population is identified.

ADAS patients have a wide spectrum clinical presentations ranging from asymptomatic to kidney failure, a pattern not clearly related to the causative gene or type of variant.

By comprehensive screening of multiple cystic disease and modifier genes, targeted gene panel, whole-exome, or whole-genome sequencing is expected to improve both diagnostic and prognostic accuracy to advance personalized medicine in autosomal dominant polycystic kidney disease.

Genome-wide association analysis of 1,172 urinary metabolites identifies 240 metabolite–locus associations that when combined with UK Biobank data suggest novel metabolic mediators of disease and markers of disease risk.

The state of the art for mbGWAS is discussed, focusing on current challenges such as the heterogeneity of microbiome measurements and power issues, and potential future directions for genetic analysis of the microbiome are highlighted.

This Review discusses the application of single-cell multi-omics technologies to the study of cancer evolution, which capture and integrate the different layers of heritable information and reveal their complex interplay.

Abstract Background Obsessive-compulsive disorder (OCD) is a psychiatric disorder with multiple symptom dimensions (e.g. contamination, symmetry). OCD clusters in families and decades of twin studies clearly demonstrate an important role for genetics in the etiology of the disorder. Methods In this review, we summarize the genetic epidemiology and molecular genetic studies of OCD and obsessive-compulsive symptoms. Results OCD is a heritable, polygenic disorder with contributions from both common and rare variants, including de novo deleterious variations. Multiple studies have provided reliabl...

Various aspects of human infertility are reviewed, including etiology, mechanisms, and treatments, with a particular emphasis on genetics, including gamete production and gamete quality, which is the core of successful reproduction.