Genetics impact factor
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Genetics Impact Factor: A Comprehensive Overview
Genetic Risk Factors and Disease Burden
Genetic risk factors significantly influence the burden of diseases, quantified through disability-adjusted life years (DALYs). Research involving 735,748 individuals has shown that rare genetic variants have a higher impact on DALYs at the individual level compared to common variants. However, common variants are more relevant at the population level. For instance, the rs3798220 (LPA) variant and polygenic scores for chronic pain have substantial effects on DALYs, comparable to modifiable risk factors like high sodium intake and low physical activity1.
Impact Factor of Genetics Journals
The impact factor of genetics journals is a critical metric for assessing their influence and reach. For example, the European Journal of Human Genetics saw its impact factor rise from 3.657 to 4.246 in 2020. This increase reflects improved editorial performance, faster review times, and a growing social media presence, which helps in promoting published research2.
Genetic and Epigenetic Contributions to Disease
High-resolution profiling of genetic, epigenetic, and transcriptomic data in human immune cells has revealed the complex interplay between these factors in disease phenotypes. Quantitative trait locus (QTL) mapping and allele-specific analyses have identified coordinated genetic effects on gene expression, methylation, and histone variation, providing insights into the molecular events underpinning complex disease risks3.
Genetics and Extinction Risk
Genetic factors such as inbreeding depression and loss of genetic diversity significantly increase the risk of extinction in both laboratory and wild populations. Studies have shown that genetic factors impact species before they are driven to extinction, with threatened taxa exhibiting significantly lower heterozygosity compared to non-threatened taxa. This reduced genetic diversity compromises reproductive fitness and elevates extinction risk4 10.
Genomic Annotation and Regulatory Elements
The IMPACT strategy for genomic annotation leverages local epigenomic signatures to identify regulatory elements defined by cell-state-specific transcription factor binding profiles. This method has proven effective in distinguishing between bound and unbound transcription factor motif sites and capturing cis-eQTL variation, offering a comprehensive explanation for complex trait associations such as rheumatoid arthritis5.
Molecular Genetics in Myelofibrosis
Molecular genetics play a crucial role in predicting outcomes for myelofibrosis patients undergoing allogeneic stem cell transplantation. Mutations in genes like CALR, ASXL1, and IDH2 have been identified as independent factors influencing non-relapse mortality, progression-free survival, and overall survival. These genetic markers can thus be used to predict patient outcomes and tailor treatment strategies6.
Genetic and Environmental Risk Factors in Cancer
Genome-wide association studies (GWAS) have identified numerous genetic susceptibility loci for cancers. Combining genetic information with environmental risk factors can enhance risk stratification, aiding in individual decision-making and population-based prevention programs. This approach is particularly relevant for breast cancer, where genetic and modifiable risk factors together can inform prevention strategies7.
Genetic Testing and Cancer Risk Management
The IMPACT study evaluates interventions designed to improve cancer risk management and family communication of genetic test results. By increasing engagement with guideline-based cancer risk management and enhancing family communication, these interventions aim to improve outcomes for individuals with inherited cancer predispositions8.
Genetic Factors in Tooth Impaction
Genetic variations in genes such as PAX9, MSX1, AXIN2, and IRF6 have been linked to tooth impaction. Disruptions in these genes, which are crucial for tooth and periodontal tissue development, suggest that specific genetic markers may predispose individuals to tooth impaction9.
Conclusion
Genetic factors play a pivotal role in various aspects of health and disease, from influencing disease burden and extinction risk to informing cancer prevention and treatment strategies. Understanding these genetic influences and integrating them into public health efforts can lead to more effective prevention and management of diseases.
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Most relevant research papers on this topic
Genetic risk factors have a substantial impact on healthy life years
Genetic risk factors contribute significantly to the loss of healthy life years at both the individual and population levels, highlighting the need to incorporate genetic information into public health efforts.
Observational Study
Rigorous JournalA new impact factor for European Journal of Human Genetics
The European Journal of Human Genetics has improved its impact factor, highlighting the importance of genomic research in understanding and treating diseases.
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
High-resolution genetic, epigenetic, and transcriptomic profiling in human immune cells reveals coordinated genetic effects on gene expression, methylation, and histone variation, potentially underpinning complex disease risk.
In Vitro Study
Highly CitedGenetics and extinction
Inbreeding depression and loss of genetic diversity contribute to extinction risk, and ignoring these factors may lead to underestimated extinction risks and inappropriate recovery strategies.
Highly CitedIMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors
IMPACT accurately identifies regulatory elements in the genome by leveraging cell-state-specific transcription factor binding profiles, outperforming state-of-the-art methods.
Rigorous JournalImpact of Molecular Genetics on Outcome in Myelofibrosis Patients after Allogeneic Stem Cell Transplantation.
Molecular genetics, particularly CALR, IDH2, and ASXL1 mutations, can predict outcomes after allogeneic stem cell transplantation for myelofibrosis patients.
Observational StudyHighly CitedCombined associations of genetic and environmental risk factors: implications for prevention of breast cancer.
Genetic information combined with environmental risk factors can provide useful risk stratification for individual decision-making and population-based prevention programs in breast cancer.
Very Rigorous JournalHighly CitedIMProving care After inherited Cancer Testing (IMPACT) study: protocol of a randomized trial evaluating the efficacy of two interventions designed to improve cancer risk management and family communication of genetic test results
GeneSHARE and My Gene Counsel's Living Lab Report interventions can improve family communication of genetic test results and guideline-based cancer risk management for individuals with inherited cancer predisposition.
RCTRigorous JournalGenetic Factors of Teeth Impaction: Polymorphic and Haplotype Variants of PAX9, MSX1, AXIN2, and IRF6 Genes
Polymorphic and haplotype variants of PAX9, MSX1, AXIN2, and IRF6 genes may contribute to tooth impaction in individuals with genetic variations.
Most species are not driven to extinction before genetic factors impact them.
Most species are not driven to extinction before genetic factors negatively impact them, leading to lowered evolutionary potential, compromised reproductive fitness, and elevated extinction risk in the wild.
Highly Cited