ORIGINAL PAPER
Healthcare data management, regarding the growing popularity of precision medicine
 
More details
Hide details
1
Military University of Technology, Institute of Computer and Information System
 
 
Online publication date: 2019-09-25
 
 
Publication date: 2019-09-25
 
 
NSZ 2019;14(3):99-111
 
KEYWORDS
TOPICS
ABSTRACT
Precision medicine that is studying DNA-based diseases is gaining more and more popularity in the world thanks to the dynamic development of sequencing technology. In 2003, the Human Genome Project (HGP, Human Genome Project) was completed, lasting 15 years and costing 2.7 billion dollars. Currently, the cost of running a genome test is around USD 1,000 and lasts only a few hours to several days, depending on the technology chosen. This document contains the most important concepts related to precision medicine and healthcare data management. Due to the significant reduction in costs associated with carrying out genetic tests, they have become more available and can be taken into account in patient studies. The techniques and methods discussed generate a large amount of medical data that should be managed and also used in preventive healthcare.
REFERENCES (17)
1.
BUTKIEWICZ M. ET AL., 2018, Functional annotation of genomic variants in studies of late-onset Alzheimer's disease, “Bioinformatics”, https://www.ncbi.nlm.nih.gov/p... (15.08.2018).
 
2.
CHIAL H., 2008, DNA Sequencing Technologies Key to the Human Genome Project, “Nature”, https://www.nature.com/scitabl... (11.12.2015).
 
3.
LI H. ET AL., 2009, The Sequence Alignment/Map format and SAMtools, “Bioinformatics”.
 
4.
LOSCALZO J., ANTMAN E., 2016, Precision medicine in cardiology, “Nature”, https://www.nature.com.
 
5.
MEDICINE ENCYCLOPEDIA, 2018, Genetics of Disease – Mendelian And Complex Disorders, http://medicine.jrank.org/page... (30.01.2015).
 
6.
MIKO I., JEUNE L.L., 2014, Essentials of Genetics, Cambridge.
 
7.
NG S. et al., 2010, Exome sequencing identifies the cause of a Mendelian disorder, “Nature Genetics”.
 
8.
PERKINS B., CASKEY C., BRAR P., 2018, Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults, “PNAS”, https://www.ncbi.nlm.nih.gov/p... (11.03.2018).
 
9.
PUZYREV V. ET AL., 2015, Association of mitochondrial DNA polymorphism with myocardial infarction and prognostic signs for atherosclerosis, “Molecular Biology”, https://link.springer.com/arti... (11.12.2015).
 
10.
RICE P., COCK P., CHRISTOPHER F., NAOHISA G., MICHAEL H., 2009, The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants, “Nucleic Acids Research”, https://academic.oup.com/nar/a... (16.12.2009).
 
11.
SAMTOOL, 2018, Sequence Alignment/Map Format Specification, https://samtools.github.io/hts... (26.07.2018).
 
12.
SAMTOOLS, 2018, The Variant Call Format Specification, https://samtools.github.io/hts... (26.07.2018).
 
13.
SON J. ET AL., 2018, Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes, “American Journal of human genetics”, https://www.ncbi.nlm.nih.gov/p... (28.07.2018).
 
14.
STARLING J., 2013, The Origin of the Term “Junk DNA”: A Historical Whodunnit, http://judgestarling.tumblr.co... (19.10.2013).
 
15.
TOP MOBILE TRENDS, 2014, Mobile Tech Contributions to Healthcare and Patient Experience, https://web.archive.org/web/20... (30.01.2015).
 
16.
U.S. NATIONAL LIBRARY OF MEDICINE, https://ghr.nlm.nih.gov/primer..., (25.09.2018).
 
17.
WHITEHOUSE.GOV, 2015, FACT SHEET: President Obama's Precision Medicine Initiative.
 
eISSN:2719-860X
ISSN:1896-9380
Journals System - logo
Scroll to top