scholarly journals Understanding science communication in human genetics using text mining

2020 ◽  
Author(s):  
José J. Morosoli ◽  
Lucía Colodro-Conde ◽  
Fiona K. Barlow ◽  
Sarah E. Medland
Keyword(s):  
Text Mining ◽  
Media Coverage ◽  
Science Communication ◽  
Ethical Issues ◽  
Social Issues ◽  
Association Studies ◽  
Genetic Research ◽  
Online News ◽  
Online Media ◽  
Genome Wide Association Studies

We conducted the first systematic text mining review of online media coverage of genome-wide association studies (GWAS) and analyzed trends in media coverage, readability, themes, and mentions of ethical, legal, and social issues (ELSI). Over 5,000 online news articles published from 2005 to 2018 all over the world were included in analyses. Our results show that while some GWAS attract a great deal of online interest many are not reported on, and that those that are covered are described in language too complex to be understood by the general public. Ethical issues are largely unaddressed, while suggestions for translation are increasing over time. Our review identifies areas that need to improve to increase the effectiveness and accuracy of the communication of genetic research findings in online media. We have also developed a website where all results described below can be explored interactively: https://jjmorosoli.shinyapps.io/newas/.

scholarly journals Analisis Framing Pemberitaan Kebijakan Pemerintah Terkait Ketenagakerjaan sebagai Dampak Covid 19 di Kompas.com dan Malaysiakini

REPRESENTAMEN ◽  
2020 ◽  
Vol 6 (02) ◽  
Author(s):  
Merry Fridha Tri Palupi ◽  
Rahmat Edi Irawan
Keyword(s):  
Media Coverage ◽  
Social Issues ◽  
Opinion Leader ◽  
Online News ◽  
Labor Policy ◽  
Point Of View ◽  
Online Media ◽  
Business World ◽  
In The Beginning ◽  
The Impact

Abstract In the beginning of 2020 the mass media coverage was adorned with information about covid-19 outbreaks. The spread of covid-19 has crossed continents and even the rest of the world, making this period called as pandemic because it has infected 4.9 million people. The magnitude of this incident made the media including Kompas.com and Malaysiakini.com continue to convey information not only about health issues, but also other impacts in various fields such as law, politics, security and other social issues such as the economy and employment. This online news portal from Indonesia and Malaysia always reports on the development of covid-19 outbreaks in their respective countries. So much news was uploaded by the two online media that researcher only chose one news related to labor policy as the impact of covid-19 outbreaks. Using the theory of reality construction from Peter L. Berger, researcher analyzed the news framing using Robert N Enmant's model. The results showed an imbalance between the two online news portals because it only represented one party, where Kompas.com fetched news about wages from the point of view of the business world while Malaysiakini framed the appeal for the suspension of Eid Al-fitr leave that delivered by Mufti P Pinang as an opinion leader who respected by the Malaysian society. Keywords: Framing Analysis, Policy, Labor, Pandemic, Online Media.

scholarly journals Insights into Dyslexia Genetics Research from the Last Two Decades

2021 ◽  
Vol 12 (1) ◽  
pp. 27
Author(s):  
Florina Erbeli ◽  
Marianne Rice ◽  
Silvia Paracchini
Keyword(s):  
Language Disorder ◽  
Association Studies ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Genetics Research ◽  
Genome Wide ◽  
Genetic Risks

Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.

scholarly journals Increasing Sample Diversity in Psychiatric Genetics – Introducing a new Cohort of Patients with Schizophrenia and Controls from Vietnam – Results from a Pilot Study

2021 ◽  
Author(s):  
VT Nguyen ◽  
A Braun ◽  
J Kraft ◽  
TMT Ta ◽  
GM Panagiotaropoulou ◽  
...  
Keyword(s):  
Pilot Study ◽  
Data Collection ◽  
Predictive Power ◽  
Association Studies ◽  
East Asian ◽  
Genetic Research ◽  
European Ancestry ◽  
Risk Scores ◽  
Genome Wide Association Studies ◽  
Genome Wide

AbstractObjectivesGenome-Wide Association Studies (GWAS) of Schizophrenia (SCZ) have provided new biological insights; however, most cohorts are of European ancestry. As a result, derived polygenic risk scores (PRS) show decreased predictive power when applied to populations of different ancestries. We aimed to assess the feasibility of a large-scale data collection in Hanoi, Vietnam, contribute to international efforts to diversify ancestry in SCZ genetic research and examine the transferability of SCZ-PRS to individuals of Vietnamese Kinh ancestry.MethodsIn a pilot study, 368 individuals (including 190 SCZ cases) were recruited at the Hanoi Medical University’s associated psychiatric hospitals and outpatient facilities. Data collection included sociodemographic data, baseline clinical data, clinical interviews assessing symptom severity and genome-wide SNP genotyping. SCZ-PRS were generated using different training data sets: i) European, ii) East-Asian and iii) trans-ancestry GWAS summary statistics from the latest SCZ GWAS meta-analysis.ResultsSCZ-PRS significantly predicted case status in Vietnamese individuals using mixed-ancestry (R2 liability=4.9%, p=6.83*10−8), East-Asian (R2 liability=4.5%, p=2.73*10−7) and European (R2 liability=3.8%, p = 1.79*10−6) discovery samples.DiscussionOur results corroborate previous findings of reduced PRS predictive power across populations, highlighting the importance of ancestral diversity in GWA studies.

Insights into the genomics of affective disorders

2020 ◽  
Vol 32 (1) ◽  
pp. 9-18
Author(s):  
Andreas J. Forstner ◽  
Per Hoffmann ◽  
Markus M. Nöthen ◽  
Sven Cichon
Keyword(s):  
Bipolar Disorder ◽  
Major Depression ◽  
Affective Disorders ◽  
Association Studies ◽  
Phenotypic Variability ◽  
Genetic Research ◽  
Autism Spectrum ◽  
Risk Scores ◽  
Depression Symptoms ◽  
Genome Wide Association Studies

Abstract Affective disorders, or mood disorders, are a group of neuropsychiatric illnesses that are characterized by a disturbance of mood or affect. Most genetic research in this field to date has focused on bipolar disorder and major depression. Symptoms of major depression include a depressed mood, reduced energy, and a loss of interest and enjoyment. Bipolar disorder is characterized by the occurrence of (hypo)manic episodes, which generally alternate with periods of depression. Formal and molecular genetic studies have demonstrated that affective disorders are multifactorial diseases, in which both genetic and environmental factors contribute to disease development. Twin and family studies have generated heritability estimates of 58–85 % for bipolar disorder and 40 % for major depression. Large genome-wide association studies have provided important insights into the genetics of affective disorders via the identification of a number of common genetic risk factors. Based on these studies, the estimated overall contribution of common variants to the phenotypic variability (single-nucleotide polymorphism [SNP]-based heritability) is 17–23 % for bipolar disorder and 9 % for major depression. Bioinformatic analyses suggest that the associated loci and implicated genes converge into specific pathways, including calcium signaling. Research suggests that rare copy number variants make a lower contribution to the development of affective disorders than to other psychiatric diseases, such as schizophrenia or the autism spectrum disorders, which would be compatible with their less pronounced negative impact on reproduction. However, the identification of rare sequence variants remains in its infancy, as available next-generation sequencing studies have been conducted in limited samples. Future research strategies will include the enlargement of genomic data sets via innovative recruitment strategies; functional analyses of known associated loci; and the development of new, etiologically based disease models. Researchers hope that deeper insights into the biological causes of affective disorders will eventually lead to improved diagnostics and disease prediction, as well as to the development of new preventative, diagnostic, and therapeutic strategies. Pharmacogenetics and the application of polygenic risk scores represent promising initial approaches to the future translation of genomic findings into psychiatric clinical practice.

Behavior and Molecular Genetics of Personality Disorders

2012 ◽  
pp. 142-165
Author(s):  
Susan C. South ◽  
Ted Reichborn-Kjennerud ◽  
Nicholas R. Eaton ◽  
Robert F. Krueger
Keyword(s):  
Personality Disorder ◽  
Personality Disorders ◽  
Molecular Genetics ◽  
Behavior Genetics ◽  
Association Studies ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Personality Pathology ◽  
Genome Wide Association Studies

The purpose of this chapter is to provide an overview of the behavior and molecular genetics of personality disorder. We begin with a thorough review of findings from the field of behavior genetics of personality pathology, including univariate twin studies, multivariate twin studies, and new models of gene–environment interplay. We then discuss the molecular genetics of personality pathology, including a consideration of candidate gene analysis, linkage analysis, and genome-wide association studies. We focus in particular on research concerning antisocial personality disorder (including antisociality and aggression), borderline personality disorder, schizotypal personality disorder, Cluster B and C personality disorders, and normal personality traits. We then provide a discussion of challenges and future directions with respect to behavior and molecular genetic research. We conclude the chapter with a discussion of the implications of this research for the forthcoming fifth edition of the American Psychiatric Association’s diagnostic manual.

Sociology, Genetics, and the Coming of Age of Sociogenomics

2020 ◽  
Vol 46 (1) ◽  
pp. 553-581 ◽  
Author(s):  
Melinda C. Mills ◽  
Felix C. Tropf
Keyword(s):  
Coming Of Age ◽  
Association Studies ◽  
Molecular Genetic ◽  
Genetic Correlations ◽  
Genetic Research ◽  
Well Being ◽  
Environment Interaction ◽  
Genome Wide Association Studies ◽  
Molecular Genetic Data ◽  
Polygenic Scores

Recent years have seen the birth of sociogenomics via the infusion of molecular genetic data. We chronicle the history of genetics, focusing particularly on post-2005 genome-wide association studies, the post-2015 big data era, and the emergence of polygenic scores. We argue that understanding polygenic scores, including their genetic correlations with each other, causation, and underlying biological architecture, is vital. We show how genetics can be introduced to understand a myriad of topics such as fertility, educational attainment, intergenerational social mobility, well-being, addiction, risky behavior, and longevity. Although models of gene-environment interaction and correlation mirror agency and structure models in sociology, genetics is yet to be fully discovered by this discipline. We conclude with a critical reflection on the lack of diversity, nonrepresentative samples, precision policy applications, ethics, and genetic determinism. We argue that sociogenomics can speak to long-standing sociological questions and that sociologists can offer innovative theoretical, measurement, and methodological innovations to genetic research.

Family history of venous thromboembolism as a risk factor and genetic research tool

2015 ◽  
Vol 114 (11) ◽  
pp. 890-900 ◽  
Author(s):  
Xinjun Li ◽  
Henrik Ohlsson ◽  
Jianguang Ji ◽  
Jan Sundquist ◽  
Kristina Sundquist ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Family History ◽  
Genetic Factors ◽  
Familial Aggregation ◽  
Association Studies ◽  
Genetic Research ◽  
Research Tool ◽  
Genome Wide Association Studies ◽  
Venous Diseases

SummaryFamilial clustering of venous thromboembolism (VTE) was described as far back as 1905 by Briggs. Although Egeberg discovered inherited deficiency of antithrombin in 1965, it was not until Dahlback discovered resistance to activated protein C in 1993 that it became clear that genetic factors are common risk factors of VTE. Several genes have been linked to familial aggregation of VTE and genome-wide association studies have found several novel gene loci. Still, it has been estimated that much of the heritability for VTE remains to be discovered. Family history (FH) of VTE is therefore still important to determine whether a patient has an increased genetic risk of VTE. FH has the potential to represent the sum of effects and interactions between environmental and genetic factors. In this article the design, methodology, results, clinical and genetic implications of FH studies of VTE are reviewed. FH in first-degree relatives (siblings and/or parents) is associated with a 2–3 times increased familial relative risk (FRR). However, the FRR is dependent on age, number of affected relatives, and presentation of VTE (provoked/unprovoked). Especially high familial risks are observed in individuals with two or more affected siblings (FFR> 50). However, the familial risk for recurrent VTE is much lower or non-significant. Moreover, FH of VTE appears mainly to be important for venous diseases (i. e. VTE and varicose veins). The familial associations with other diseases are weaker. In conclusion, FH of VTE is an important research tool and a clinically potential useful risk factor for VTE.

scholarly journals Investigative News of Online Media

2020 ◽  
Vol 36 (1) ◽  
pp. 1-11
Author(s):  
Septiawan Santana Kurnia ◽  
Dadi Ahmadi ◽  
Firmansyah Firmansyah
Keyword(s):  
News Media ◽  
Media Coverage ◽  
Single Case ◽  
Online News ◽  
Online Media ◽  
Research Subjects ◽  
Online Journalism ◽  
Investigative Reporting ◽  
News Stories

An investigative reporting has changed quite rapidly in the last few periods after the development of information technology. The presence of online media encourages the emergence of online journalism. The existence of online journalism, within the framework of online media, gives a certain touch to investigative reporting activities. Investigative reporting developed in online media has managerial uniqueness and certain coverage patterns. The purpose of this study is to illustrate how the management of editorials and online media coverage patterns in Indonesia conducting investigative coverage.Data for this research is obtained through interviews with data analysis using a qualitative approach and a case study method of single case-multilevel analysis. Research subjects (journalism) and research objects (online investigative news) of this study are Detik.com and Tirto.id.The results of the study show that investigative data are at the core of investigative reporting in online media. It can be in the form of direct observation under investigation (disguising) or the disclosure of new facts that have not been revealed before. The online news media in Indonesia, although it relies on the speed, also still takes into account the accuracy and rules of journalism, especially in the coverage of investigations. The online media strategy in reporting investigations is to divide investigative data into several news stories with one theme, but each headline is different according to the investigative reporting to be reported in parts.

scholarly journals Assembly of chromosome-scale and allele-aware autotetraploid genome of the Chinese alfalfa cultivar Zhongmu-4 and identification of SNP loci associated with 27 agronomic traits

2021 ◽  
Author(s):  
Ruicai Long ◽  
Fan Zhang ◽  
Zhiwu Zhang ◽  
Mingna Li ◽  
Lin Chen ◽  
...  
Keyword(s):  
Genome Sequence ◽  
Single Molecule ◽  
Agronomic Traits ◽  
Association Studies ◽  
Genetic Research ◽  
Chromosome 1 ◽  
Genome Wide Association Studies ◽  
Forage Crops ◽  
Legume Crop ◽  
Population Structure Analysis

AbstractAlfalfa (Medicago sativaL.), the most valuable perennial legume crop, referred to as “Queen of the Forages” for its high nutritional value and yield production among forage crops. Comprehensive genomic information of germplasm resources from different ecological regions and modern breeding strategies, such as molecular-marker assisted breeding are of great importance to breed new alfalfa varieties with environmental resilience. Here, we report assembly of the genome sequence of Zhongmu-4 (ZM-4), one of the most planted cultivars in China, and identification of SNPs associated with alfalfa agronomic traits by Genome-wide Association Studies (GWAS). Sequence of 32 allelic chromosomes was assembled successfully by single molecule real time sequencing and Hi-C technique with ALLHiC algorithm. About 2.74 Gbp contigs, accounting for 88.39% of the estimated genome, were assembled with 2.56 Gbp contigs anchored to 32 pseudo-chromosomes. In comparison withM. truncatulaA17, distinctive inversion and translocation on chromosome 1, and between chromosome 4 and 8, respectively, were detected. Moreover, we conducted resequencing of 220 alfalfa accessions collected globally and performed GWAS analysis based on our assembled genome. Population structure analysis demonstrated that alfalfa has a complex genetic relationship among germplasm with different geographic origins. GWAS identified 101 SNPs associated with 27 out of 93 agronomic traits. The updated chromosome-scale and allele-aware genome sequence, coupled with the resequencing data of most global alfalfa germplasm, provides valuable information for alfalfa genetic research, and further analysis of major SNP loci will accelerate unravelling the molecular basis of important agronomic traits and facilitate genetic improvement of alfalfa.

scholarly journals Media and environment: how indonesia online news portal frames biodegradable issue?

2019 ◽  
Vol 3 (2) ◽  
pp. 167
Author(s):  
Monika Sri Yuliarti ◽  
Wikan Jatimurti
Keyword(s):  
Media Coverage ◽  
Environmental Issues ◽  
Online News ◽  
Treatment Recommendation ◽  
Online Media ◽  
Environmental Damage ◽  
Biodegradable Material ◽  
Analysis Model ◽  
Framing Analysis ◽  
Online News Sites

Environmental problems are still an important issue and cannot be resolved completely until now, even after the 1970s the United Nations established a world environmental day. Plastic waste is considered the most responsible for the problems of environmental damage today. Therefore, an innovation that comes from biodegradable material, with its biodegradable product is considered to be the answer to this environmental problem. This study examines how reporting on the environment is framed in online mass media, especially in relation to biodegradable material and biodegradable products. This is qualitative research, with the object of two Indonesian online news sites, namely www.detik.com and www.okezone.com. Data collection techniques used is document studies and data analysis techniques employed is Robert N. Entman's Framing analysis model which involves four elements, namely: define problems, diagnose causes, make moral judgment, and treatment recommendation. The findings of this study are that environmental issues have not dominated online media coverage, and the biodegradable issue has not been framed thoroughly by online media.

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