Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genomic research”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMedDate not supplied

Directions for clinical research and genomic research into the next decade: implications for informatics.

Medical informatics is defined largely by its host disciplines in clinical and biological medicine, and to project the agenda for informatics into the next decade, the health community must envision the broad context of biomedical research. This paper is a sketch of this vision, taking into account pressures from changes in the U.S. health care system, the need for more objective information on which to base health care decisions, and the accelerating progress and clinical impact of genomics research. The lessons of modern genomics research demonstrate the power of computing and communication tools to facilitate rapid progress through the adoption of open community standards for information exchange and collaboration. While aspects of this vision are speculative, it seems clear that the core agenda for informatics must be the development of interoperating systems that can facilitate the secure gathering, interchange, and analysis of high-quality information and can gain leverage from worldwide collaboration in advancing and applying new medical knowledge.

Clinical Trials as Topic↗
PubMed1998

Databases in genomic research.

Genome-related databases have already become an invaluable part of the scientific landscape. The role played by these databases will only increase as the volume and complexity of relevant biology data rapidly expand. We are far enough into the genome project and into the development of these databases to assess their attributes and to reexamine some of the conceptual organizations and approaches they are taking. It is clear that there are needs for both highly detailed and simplified database views, the latter being especially needed to make expert domain data more accessible to nonspecialists.

Animals↗
PubMed2026

"Will it be enough to be respected?": understanding personal, institutional, and societal harms and benefits of genomics research.

BACKGROUND: Transgender Identity Genomics Research (TIGR)-research examining potential associations between genetic factors and transgender, nonbinary, and gender diverse (trans) identities-takes place in a complex landscape with significant potential to either benefit or harm trans communities. As public and political scrutiny of trans communities intensifies, the stakes and potential impacts of TIGR are heightened and ethical, legal and social implications must be considered. To better understand how those who would be most affected by TIGR view such research, we explored trans adults' perceptions of TIGR in the current environment and how they perceive TIGR may impact their futures. METHODS: Using a community-based participatory research approach, we partnered with a trans-led Executive Stakeholder Board to conduct in-depth interviews with 31 trans adults in the United States between June-December 2024 and conducted a Reflexive Thematic Analysis. RESULTS: Participants (mean age=34 years, range=19-73 years; 61% people of color; 39% nonbinary, 39% transgender women, 22% transgender men) identified possible benefits of TIGR such as personal affirmation, increased social acceptance, and improved access to gender-affirming healthcare. They also expressed concerns about potential harms, including further stigmatization, discrimination, and pathologization of trans identities. While most viewed research in trans communities (including TIGR) as a net positive, some participants felt it less useful compared to addressing more urgent, material challenges trans communities face. CONCLUSION: Our findings underscore that TIGR, like all scientific research, is shaped by the sociopolitical environment. It is imperative that TIGR researchers engage meaningfully and ethically with trans communities to minimize potential harms and center community needs.

Genetics↗
PubMed2025

Underrepresented populations in genomic research: a qualitative study of researchers' perspectives.

BACKGROUND: The lack of diversity in genomic data limits researchers' ability to investigate the relationships between genetic profiles, disease manifestations, and responses to new therapies. As a result, innovations in treatment could have potentially harmful effects on a significant portion of the population due to incomplete or inaccurate genomic data. In addition, the lack of harmonization in the use of population descriptors in genomic studies raises both ethical and scientific concerns regarding which descriptors should be used to study and recruit underrepresented populations. Therefore, understanding the factors contributing to the lack of diversity in genomic research is an urgent scientific, clinical, and public health priority. This study aims to explore the social and contextual factors influencing the participation of underrepresented populations in genomic research, from the perspective of researchers in the field. METHODS: A total of 13 semi-structured interviews were conducted with researchers experienced in genomic research in Canada and fluent in either French or English. The interview transcripts were analyzed using thematic analysis. RESULTS: Researchers identified several factors contributing to the low participation of underrepresented populations in genomic research, with one key factor being the geographic distribution of research institutions and the disconnect between research efforts and the communities being studied. To address this issue, participants stressed the importance of moving away from colonial practices, such as conducting research on a community without consulting its members in the design phase. Furthermore, it was suggested that existing diversity, equity, and inclusion policies alone were insufficient to effectively address the challenge. Lastly, the study also highlighted a potential link between how study populations are categorized and the willingness of underrepresented groups to participate in genomic research. CONCLUSION: Although researchers are generally aware of the literature on the causes, consequences, and potential solutions for increasing participation, confusion remains regarding the use of population descriptors. Our findings highlight the need for improved education, greater consensus, and expanded dialogue within the genomic research community to promote the harmonization of population descriptors.

Humans↗
PubMed2025

Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it?

PURPOSE: Genomics research enrolling undiagnosed patients can provide answers for one-third of participants, and more can be diagnosed through future reanalysis. The long-term value for participants has raised questions of the sustainability of these studies, but the meaning, goals, and best practices for sustainability remain unclear. METHODS: We conducted semistructured interviews with researchers leading studies enrolling undiagnosed patients in the United States and Canada and used thematic content analysis to summarize key themes. RESULTS: Researchers lacked consensus regarding what sustainability was actually intended to sustain, variably referencing study procedures, personnel, data access, and participant recontact. However, the primary driver of sustainability was widely shared as the perceived obligation to continue to search for answers for undiagnosed participants. Proposed sustainability strategies included diversifying funding sources, developing centralized data infrastructure, and building collaborations across disciplines and institutions. Researchers also emphasized the need to address ethical concerns, to integrate research with clinical care, and for leadership from research funders to guide these efforts. CONCLUSION: Although genomics researchers perceived continued obligations to undiagnosed participants, they also lacked a shared understanding of the goals of sustainability and called for coordinated efforts to develop centralized infrastructure that integrated research and clinical care.

Humans↗
PubMed1993

USDA's Plant Genome Research Program.

Biotechnology will provide U.S. farmers with another green revolution. The United States Department of Agriculture has put together the Plant Genome Research Program as a coordinated multi-agency effort within the department to help develop the "new agriculture." The Cooperative State Research Service is managing the program's competitive research grants. Research topics include high- and low-resolution chromosomal maps; the isolation and transfer of economically important genes; and new technology developments. The Agricultural Research Service is the lead agency for the Plant Genome Research Program and coordinates data collection and information management resources for the program. Five species groups are collaborating in the database development effort for the program by defining the user needs for their species and collecting and evaluating their species data for the database. A central database for the Plant Genome Research Program is under development at the National Agricultural Library (NAL) and ultimately will contain data for as many as seventy-one different plant species. NAL will provide user access via Internet, dial-up modem, and, at a later date, a CD-ROM product.

Chromosome Mapping↗
PubMed2026

[Applications and Challenges of Deep Learning in Human Genome Research].

In recent years, the advent of high-throughput omics technologies has fueled an explosive growth in human genomic data. Uncovering the latent functions within this vast data has become a significant challenge in functional genomics research. While traditional statistical methods have proved successful for analyzing smaller-scale datasets in the past, they exhibit clear limitations in analytical efficiency and integrating multi-dimensional data, struggling to meet the escalating demands of contemporary genomic analysis. The introduction of deep learning (DL) technologies offers a novel paradigm for this field. This review systematically examines the advances in applying deep learning to human genomics research. Studies demonstrate that when ample labeled data is available, discriminative DL computational methods-such as Convolutional Neural Networks (CNNs) and Long Short-Term Memory networks (LSTMs)-achieve high accuracy and efficiency in genomic variant discovery tasks. Furthermore, generative DL methods, particularly Large Language Models (LLMs) leveraging self-supervised pre-training strategies, effectively integrate complex genomic information and exhibit superior performance in functional genomic sequence annotation and gene regulation studies. This review also explores the application of LLMs in multi-omics data integration and prediction. Looking ahead, the continued accumulation of long-read sequencing and high-dimensional data is expected to enable DL technologies to integrate increasingly complex and heterogeneous genomic information, playing an increasingly crucial role in human genomics research.

Deep Learning↗
PubMed2000

Impact of human genome research on medicine--the initial Taiwan experience.

The human genome contains at least 80,000 genes, and each carries out its unique biologic function in the human body. Gene mutation and variation may result in hereditary disease, cancer, hypertension, and even susceptibility to infectious diseases. A complete compilation of all human genes (the human genome) should allow a better understanding of the role of specific genes in diseases and, consequently, better design of effective treatments. The human genome project (HGP) is scheduled to be completed in 2003. This article reviews the novel technology used in the HGP and the new information that will be generated. The results will influence medical practice greatly. Indeed, as in the forthcoming era of genomic medicine, a battery of gene tests is likely to be as routine as blood chemistry tests are today. The impacts are to be felt soon and medical professionals should be ready to grasp and apply new knowledge as it becomes available to better serve their patients. We also describe how the findings from the HGP might be used to solve locally important medical problems, using the examples of genomic research in liver and nasopharyngeal cancers. Finally, because the HGP has raised many new ethical, legal, and social challenges that should often take precedence over the problems of technology, an overview of these issues is also provided.

Carcinoma, Hepatocellular↗
PubMed1999

The involvement of genome researchers in high school science education.

The rapid accumulation of genetic information generated by the Human Genome Project and related research has heightened public awareness of genetics issues. Education in genome science is needed at all levels in our society by specific audiences and the general public so that individuals can make well-informed decisions related to public policy and issues such as genetic testing. Many scientists have found that an effective vehicle for reaching a broad sector of society is through high school biology courses. From an educational perspective, genome science offers many ways to meet emerging science learning goals, which are influencing science teaching nationally. To effectively meet the goals of the science and education communities, genome education needs to include several major components-accurate and current information about genomics, hands-on experience with DNA techniques, education in ethical decision-making, and career counseling and preparation. To be most successful, we have found that genome education programs require the collaborative efforts of science teachers, genome researchers, ethicists, genetic counselors, and business partners. This report is intended as a guide for genome researchers with an interest in participating in pre-college education, providing rationale for their involvement and recommendations for ways they can contribute, and highlighting a few exemplary programs. World Wide Web addresses for all of the programs discussed in this report are given in Table 1. We are developing a database of outreach programs offering genetics education () and request that readers submit an entry describing their programs. We invite researchers to contact us for more information about activities in their local area.

Adolescent↗
PubMed1995

FISH in genome research and molecular diagnostics.

Fluorescence in situ hybridization (FISH) has profoundly altered the aspect of genome research and molecular diagnostics. Deletions of only a few kilobases can be detected by hybridizing probes to naked DNA fibers. Loss or gain of chromosomal material in tumor cells can be visualized using comparative genome hybridization. Further diversification of FISH application will result from new ultrasensitive detection techniques.

Chromosome Aberrations↗
PubMed1992

Genome research: fulfilling the public's expectations for knowledge and commercialization.

This article provides a historical perspective for the patenting of gene sequences and describes the fundamentals and evolution of patent law. It summarizes federal technology transfer law and policy and assesses the impacts of patenting on academic research. The patentability of gene sequences is then considered along with potential impacts that published sequence data may have on obtaining patent protection for downstream products. Industry's position on gene patenting is summarized and perspectives from the emerging public record on these issues are presented. The article discussing points at which the filing of patent applications and the licensing of patents may be appropriate. It concludes that technology transfer policies for genome research must be adopted carefully so that they remain viable in a time of rapid technological change.

Animals↗
PubMed1998

Gene expression micro-arrays: a new tool for genomic research.

Gene Expression Micro-arrays, GEMs, measure the expression levels of thousands of genes simultaneously. GEMs utilize microscopic cDNA elements on a glass surface, low-volume hybridizations of total cDNA, and two-color fluorescence detection. This seminar will present data from GEMs containing thousands of human genes and discuss the use of this technology in genomic research.

DNA Probes↗
PubMedDate not supplied

Genome research: implications for children.

New discoveries from genetic research may benefit children through increased knowledge of genetic causes of diseases, and new methods of diagnosis and treatment including presymptomatic diagnoses, carrier diagnoses, and gene therapy. However, these discoveries are also creating ethical, legal, and social dilemmas regarding children's health. Inaccurate interpretation of carrier test results, a limited understanding of implications of genetic information, emotional implications of testing, and potential insurance denials are examples. Ways in which pediatric nurses will apply knowledge of genome research in their practice include: education, counseling, advocacy, clarification of values and feelings, and referral for information, support, and assistance.

Child↗
PubMed2026

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.

Nine-year-old brain tumor patient Gabriella Miller challenged members of Congress to "stop talking and start doing" when providing federal funding for research into cures for pediatric cancer and congenital anomalies. Though she ultimately lost her life to that cancer, her advocacy efforts resulted in the 2014 Gabriella Miller Kids First Research Act, launching the Gabriella Miller Kids First Pediatric Research Program at the National Institutes of Health (NIH). The overarching goal of the Gabriella Miller Kids First Pediatric Research Program is to help researchers uncover new insights into the biology of childhood cancer and congenital anomalies. Following the signing of the Gabriella Miller Kids First Research Act 2.0 in January 2025, the program has been extended at NIH through 2028 to advance the groundwork laid in the program's first ten years. The Gabriella Miller Kids First Data Resource Center has since honored her legacy by building a comprehensive data resource for genomic research into pediatric conditions. Data from more than 30,000 participants annotated with demographic and clinical information related to their diagnoses have been released for secondary research and analysis using the center's web-based platforms. This paper analyzes the outcomes of the initiative and highlights breakthroughs made by the larger research community resulting from the availability of this data resource. We explore the future expansion of the data resource to include new modalities and tools for supporting life-saving research for children like Gabriella Miller.

Humans↗