Abstract:The Human Genome Project was expected to individualize medicine by rapidly advancing knowledge of common complex disease through discovery of disease-causing genetic variants. However, this has proved challenging. Although linkage analysis has identified replicated chromosomal regions, subsequent detection of causal variants for complex traits has been limited. One explanation for this difficulty is that utilization of association to follow up linkage is problematic given that linkage and association are not r… Show more
“…Linkage in the biotechnology field often refers to the linkage of genes in the DNA (deoxyribonucleic acid) sequence. Examples of linkage effect studies from the biosector include the following: the variant impact on the linkage effect test (VIOLET) [23]; a genome-wide linkage scan for exercise participation [24]; consideration of the sib-sib correlation, linkage effects, and gene-environment interaction [25]; an electrochemical biosensor based on an enzyme substrate as a linker [26]; linkage effects in inbreeding [27]; electrodermal arousal between participants in a conversation [28]; and linkage effects on the binding affinity and activation of GPR30 [29].…”
Precision medicine has received a lot of attention in recent years and we have not yet found any research cases that apply Data Envelopment Analysis (DEA) to investment decision making in this area. The purpose of this study is to analyze the relative efficiency of candidate technology sectors in order to determine priorities for government investment in precision medicine. The results of the efficiency analysis can be used as an important reference for government policy makers to determine the amount of government investment in the next year for each candidate technology sector. The candidate technology for government investment in precision medicine was decided for 23 sectors based on the data analysis and the opinions of expert committees. This study applies the input-oriented DEA in regard to 23 technology sectors, which is widely used to analyze relative efficiency in terms of inputs versus outputs and to enhance efficiency through the propositional reduction of inputs. The input variables include the government’s research and development (R&D) investment and forward and backward industry linkage effects. The output variables are the employment creation effect, value-added effect, number of Korean patents, and number of Korean papers. Our analysis results show that the 23 technology sectors in precision medicine overall have a high efficiency, with the exception of the biobank technology sector. Therefore, since the Biobank technology sector has strong infrastructure characteristics, it seems to require continuous investment. The efficiency of DEA is high in most precision medicine sectors; therefore, overall, investing in these technologies is expected to yield good benefits.
“…Linkage in the biotechnology field often refers to the linkage of genes in the DNA (deoxyribonucleic acid) sequence. Examples of linkage effect studies from the biosector include the following: the variant impact on the linkage effect test (VIOLET) [23]; a genome-wide linkage scan for exercise participation [24]; consideration of the sib-sib correlation, linkage effects, and gene-environment interaction [25]; an electrochemical biosensor based on an enzyme substrate as a linker [26]; linkage effects in inbreeding [27]; electrodermal arousal between participants in a conversation [28]; and linkage effects on the binding affinity and activation of GPR30 [29].…”
Precision medicine has received a lot of attention in recent years and we have not yet found any research cases that apply Data Envelopment Analysis (DEA) to investment decision making in this area. The purpose of this study is to analyze the relative efficiency of candidate technology sectors in order to determine priorities for government investment in precision medicine. The results of the efficiency analysis can be used as an important reference for government policy makers to determine the amount of government investment in the next year for each candidate technology sector. The candidate technology for government investment in precision medicine was decided for 23 sectors based on the data analysis and the opinions of expert committees. This study applies the input-oriented DEA in regard to 23 technology sectors, which is widely used to analyze relative efficiency in terms of inputs versus outputs and to enhance efficiency through the propositional reduction of inputs. The input variables include the government’s research and development (R&D) investment and forward and backward industry linkage effects. The output variables are the employment creation effect, value-added effect, number of Korean patents, and number of Korean papers. Our analysis results show that the 23 technology sectors in precision medicine overall have a high efficiency, with the exception of the biobank technology sector. Therefore, since the Biobank technology sector has strong infrastructure characteristics, it seems to require continuous investment. The efficiency of DEA is high in most precision medicine sectors; therefore, overall, investing in these technologies is expected to yield good benefits.
Genetic determinants of sleep-disordered breathing (SDB), a common set of disorders that contribute to significant cardiovascular and neuropsychiatric morbidity, are not clear. Overnight nocturnal oxygen saturation (SaO2) is a clinically relevant and easily measured indicator of SDB severity but its genetic contribution has never been studied. Our recent study suggests nocturnal SaO2 is heritable. We performed linkage analysis, association analysis and haplotype analysis of average nocturnal oxyhaemoglobin saturation in participants in the Cleveland Family Study (CFS), followed by gene-based association and additional tests in four independent samples. Linkage analysis identified a peak (LOD = 4.29) on chromosome 8p23. Follow-up association analysis identified two haplotypes in angiopoietin-2 (ANGPT2) that significantly contributed to the variation of SaO2 (P = 8 × 10-5) and accounted for a portion of the linkage evidence. Gene-based association analysis replicated the association of ANGPT2 and nocturnal SaO2. A rare missense SNP rs200291021 in ANGPT2 was associated with serum angiopoietin-2 level (P = 1.29 × 10-4), which was associated with SaO2 (P = 0.002). Our study provides the first evidence for the association of ANGPT2, a gene previously implicated in acute lung injury syndromes, with nocturnal SaO2, suggesting that this gene has a broad range of effects on gas exchange, including influencing oxygenation during sleep.
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