We are entering the era of personalized medicine in which an individual's genetic makeup will eventually determine how a doctor can tailor his or her therapy. Therefore, it is becoming critical to understand the genetic basis of common diseases, for example, which genes predispose and rare genetic variants contribute to diseases, and so on. Our study focuses on helping researchers, medical practitioners, and pharmacists in having a broad view of genetic variants that may be implicated in the likelihood of developing certain diseases. Our focus here is to create a comprehensive database with mobile access to all available, authentic and actionable genes, SNPs, and classified diseases and drugs collected from different clinical and genomics databases worldwide, including Ensembl, GenCode, ClinVar, GeneCards, DISEASES, HGMD, OMIM, GTR, CNVD, Novoseek, Swiss‐Prot, LncRNADisease, Orphanet, GWAS Catalog, SwissVar, COSMIC, WHO, and FDA. We present a new cutting‐edge gene‐SNP‐disease‐drug mobile database with a smart phone application, integrating information about classified diseases and related genes, germline and somatic mutations, and drugs. Its database includes over 59 000 protein‐coding and noncoding genes; over 67 000 germline SNPs and over a million somatic mutations reported for over 19 000 protein‐coding genes located in over 1000 regions, published with over 3000 articles in over 415 journals available at the PUBMED; over 80 000 ICDs; over 123 000 NDCs; and over 100 000 classified gene‐SNP‐disease associations. We present an application that can provide new insights into the information about genetic basis of human complex diseases and contribute to assimilating genomic with phenotypic data for the availability of gene‐based designer drugs, precise targeting of molecular fingerprints for tumor, appropriate drug therapy, predicting individual susceptibility to disease, diagnosis, and treatment of rare illnesses are all a few of the many transformations expected in the decade to come.
Survey research is an essential component of epidemiological research to understand the health of older adults. However, there are several limitations to conventional data collection methods that may serve as barriers for recruitment and retention of research participants, especially from minority populations. With recent technological advancements, our research team developed an innovative data collection and management system to address linguistic and cultural barriers, data quality, data security, and data preparation issues. This platform has been utilized in the Population Study of Chinese Elderly in Chicago since 2011. Future use and improvement of this system will facilitate research among minority older adults and increase research participation and representativeness to ultimately understand and improve the health and well-being of diverse populations. J Am Geriatr Soc 67:S479-S485, 2019.
A timely understanding of the biological secrets of complex diseases will ultimately benefit millions of individuals by reducing the high risks for mortality and improving the quality of life with personalized diagnoses and treatments. Due to the advancements in sequencing technologies and reduced cost, genomics data are developing at an unmatched pace and levels to foster translational research and precision medicine. Over 10 million genomics datasets have been produced and publicly shared in 2022. Diverse and high-volume genomics and clinical data have the potential to broaden the scope of biological discoveries and insights by extracting, analyzing and interpreting the hidden information. However, the current and still unresolved challenges include the integration of genomic profiles of the patients with their medical records. The definition of disease in genomics medicine is simplified, whereas in the clinical world, diseases are classified, identified and adopted with their International Classification of Diseases (ICD) codes, which are maintained by the World Health Organization. Several biological databases have been produced, which include information about human genes and related diseases. However, still, there is no database that exists, which can precisely link clinical codes with relevant genes and variants to support genomic and clinical data integration for clinical and translational medicine. In this project, we focused on the development of an annotated gene–disease–code database, which is accessible through an online, cross-platform and user-friendly application, i.e. PROMIS-APP-SUITE-Gene-Disease-Code. However, our scope is limited to the integration of ICD-9 and ICD-10 codes with the list of genes approved by the American College of Medical Genetics and Genomics. The results include over 17 000 diseases and 4000 ICD codes, and over 11 000 gene–disease–code combinations. Database URL https://promis.rutgers.edu/pas/
Given the ongoing COVID-19 pandemic, secure and distanced data collection platforms are critical for reaching vulnerable populations. Commonly used electronic data collection systems lack a myriad of critical features, including a modern technology stack, new data encryption and security standards, study workflows, and reporting algorithms. Moreover, these systems do not have multilingual mapping functionalities of survey and consent forms. All of these components ultimately increase selection bias while simultaneously reducing the security and quality of the response data. In order to directly address the aforementioned issues, we have developed a multilingual and highly secure data management platform. Our application is built using stable, tested, and modular programming frameworks and design patterns targeted at accommodating intricately complex structures of polyglot mapping, large volume of data, encryption and granular user authorization. The statistical accuracy along with the multilingual mapping are the core highlights of this system. The multilingual function of this platform has the ability to eliminate selection biases while creating a well-balanced cross-section of society. Modern survey design workflows and validation checks ultimately prevent data loss and help reduce data collection errors. The platform design was initiated in April 1, 2020 and has been pilot tested for use in multilingual populations. The currently active application version of the system is capable of supporting in-person and telephone interviews, emailing survey links to every registered participant, building family tree architecture, and online consent management. This platform also has built-in report functionality. Additional features are being explored to improve study coordination and monitoring.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.