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        Cancer Risk Score Prediction Based on a Single-Nucleotide Polymorphism Network

        Bharuno Mahesworo,Arif Budiarto,Alam Ahmad Hidayat,Bens Pardamean 대한의료정보학회 2022 Healthcare Informatics Research Vol.28 No.3

        Objectives: Genome-wide association studies (GWAS) are performed to study the associations between genetic variants withrespect to certain phenotypic traits such as cancer. However, the method that is commonly used in GWAS assumes that certaintraits are solely affected by a single mutation. We propose a network analysis method, in which we generate associationnetworks of single-nucleotide polymorphisms (SNPs) that can differentiate case and control groups. We hypothesize thatcertain phenotypic traits are attributable to mutations in groups of associated SNPs. Methods: We propose a method basedon a network analysis framework to study SNP-SNP interactions related to cancer incidence. We employed logistic regressionto measure the significance of all SNP pairs from GWAS for the incidence of colorectal cancer and computed a cancer riskscore based on the generated SNP networks. Results: We demonstrated our method in a dataset from a case-control studyof colorectal cancer in the South Sulawesi population. From the GWAS results, 20,094 pairs of 200 SNPs were created. Weobtained one cluster containing four pairs of five SNPs that passed the filtering threshold based on their p-values. A locus onchromosome 12 (12:54410007) was found to be strongly connected to the four variants on chromosome 1. A polygenic riskscore was computed from the five SNPs, and a significant difference in colorectal cancer risk was obtained between the caseand control groups. Conclusions: Our results demonstrate the applicability of our method to understand SNP-SNP interactionsand compute risk scores for various types of cancer.

      • KCI등재

        Quantified Self-Using Consumer Wearable Device: Predicting Physical and Mental Health

        Bens Pardamean,Haryono Soeparno,Arif Budiarto,Bharuno Mahesworo,James Baurley 대한의료정보학회 2020 Healthcare Informatics Research Vol.26 No.2

        Objectives: Recently, wearable device technology has gained more popularity in supporting a healthy lifestyle. Hence, researchers have begun to put significant efforts into studying the direct and indirect benefits of wearable devices for health and wellbeing. This paper summarizes recent studies on the use of consumer wearable devices to improve physical activity, mental health, and health consciousness. Methods: A thorough literature search was performed from several reputable databases, such as PubMed, Scopus, ScienceDirect, arXiv, and bioRxiv mainly using “wearable device research” as a keyword, no earlier than 2018. As a result, 25 of the most recent and relevant papers included in this review cover several topics, such as previous literature reviews (9 papers), wearable device accuracy (3 papers), self-reported data collection tools (3 papers), and wearable device intervention (10 papers). Results: All the chosen studies are discussed based on the wearable device used, complementary data, study design, and data processing method. All these previous studies indicate that wearable devices are used either to validate their benefits for general wellbeing or for more serious medical contexts, such as cardiovascular disorders and post-stroke treatment. Conclusions: Despite their huge potential for adoption in clinical settings, wearable device accuracy and validity remain the key challenge to be met. Some lessons learned and future projections, such as combining traditional study design with statistical and machine learning methods, are highlighted in this paper to provide a useful overview for other researchers carrying out similar research.

      • KCI등재

        Comparative study of predicted miRNA between Indonesia and China (Wuhan) SARS-CoV-2: a bioinformatics analysis

        Rahmadi Agus,Fasyah Ismaily,Sudigyo Digdo,Budiarto Arif,Mahesworo Bharuno,Hidayat Alam Ahmad,Pardamean Bens 한국유전학회 2021 Genes & Genomics Vol.43 No.9

        Background Several reports on the discovery of SARS-CoV-2 mutations and variations in Indonesia COVID-19 cases led to genomic dysregulation with the frst pandemic cases in Wuhan, China. MicroRNA (miRNA) plays an important role in this genetic regulation and contributes to the enhancement of viral RNA binding through the host mRNA. Objective This research is aimed to detect miRNA targets of SARS-CoV-2 and examines their role in Indonesia cases against Wuhan cases. Methods SARS-CoV-2 sequences were obtained from GISAID (https://www.gisaid.org/), NCBI (https://ncbi.nlm.nih.gov), and National Genomics Data Center (https://bigd.big.ac.cn/gwh/) databases. MiRDB (https://github.com/gbnegrini/mirdbcustom-target-search) was used to annotate and predict target human mature miRNAs. For statistical analysis, we utilized a series chi-square test to obtain signifcant miRNA. DIANA-miRPath v3.0 (http://www.microrna.gr/miRPathv3) analyzed the Gene Ontology of mature miRNAs. Result The statistical results detected fve signifcant miRNAs. Two miRNAs: hsa-miR-4778-5p and hsa-miR-4531 were consistently found in the majority of Wuhan samples, while they were only found in less than half of the Indonesia samples. The other three miRNA, hsa-miR-6844, hsa-miR-627-5p, and hsa-miR-3674, were discovered in most samples in both groups but with a signifcant diference ratio. Among these fve signifcant miRNA targets, hsa-miR-6844 is the only miRNA that has an association with the ORF1ab gene of SARS-CoV-2. Conclusion The Gene Ontology analysis of fve signifcant miRNA targets indicates a signifcant role in infammation and the immune system. The specifc detection of host miRNAs in this study shows that there are diferences in the characteristics of SARS-CoV-2 between Indonesia and Wuhan.

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