• Journal of Genetic Medicine
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• v.20 no.2
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• pp.46-51
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• 2023

Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

• Journal of Environmental Science International
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• v.6 no.5
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• pp.425-435
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• 1997

One-dimensional thermodynamic mixed layer model to stimulate variations of meteorological variables wish the planetary boundary layer has been developed In this study. This model consists of 2 prognostic equations, which can predict the variations of potential temperature and mixing ratio and several diagnostic equations. Physics within the surface and mixed layers has been considered seperately in the model. For the variations of the model, Its result has been analysed and compared with observated data over Ole Dukyang Bay for one day, July 23, 1992. The simulated height of mixed layer is comparable to the observation and the variations of temperature and mixing ratio in the mixed layer are also reasonably simulated. Those Imply that the model responds appropriately with given boundary conditions In sprite of Its simplilfied assumptions applied to the model and insufficient boundary and Initial conditions.

• Journal of the korean Society of Automotive Engineers
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• v.15 no.1
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• pp.67-72
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• 1993

Wall wetting phenomenon in the intake port of an MPI engine was investigated with different kinds of injectors by an A/F step response test and analysis was done based on the simple wall wetting model to find out a certain correlation between wall wetting and A/F variations. It was found that (1) At fully warmed condition of 90.deg.C water temperature, around 40-60% of injected fuel was wall wetted, (2) At cold condition of 45.deg.C Water temperature, around 68-80% of injected fuel was wall wetted, and (3) A/F variations during acceleration and deceleration were influenced by the wetting area, the fuel droplet size, and the amount of wall wetting fuel.

• Publications of The Korean Astronomical Society
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• v.7 no.1
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• pp.155-166
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• 1992

We observed a total of 14 Mira variables as well as 4 late type variable stars for their SiO ${\nu}= 1$, J = 2 - 1 maser lines from April 1989 to November 1990 with the 13.7 m radio telescope at Daeduk Radio Astronomy Observatory. The maser intensity variations were the prime objective of the observations which well covered the periods of the variations. The origion of the variations were studied by comparing wi th those previousely measured in optical and infrared(IR) wavelengths and we confirmed that the intensity variations were in good correlation with those in V magnitude and IR intensity as previousely found in former investigators in general. However, for a few sources, we could find the missing maxima. The intensities themselves also were in good correlation with SiO ${\nu}\;=\;1$, J = 1 - 0 maser intensities observed in Yebes as expected. The good correlations indicate that the pumping source of the SiO maser is likely to be the IR emission in the masing regions and the "missing maxima" that are apparent in two particular sources are considered to relate wi th the strength of shocks arising from the eruptive mass-loss from central stars.

• Journal of the Korean Wood Science and Technology
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• v.9 no.3
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• pp.1-6
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• 1981

This study examined the radial variations in element demensions of mongolian oak (Quercus mongolica.), elm (Ulmus japonica.), maackia(Maackia amurensis.), castor aralia (Kalopanax pictus.) from pith outwards. Disks were cut from the d.b.h.(above 1.2m) of each species and specimen for tangential pore diameters, fiber length, ray height and width were taken from 1-3rd, 5th, 10th, 15th.............40th ring number from pith. The tangential pore diameters in the earlywood increased rapidly near the pith and then maintained almost constant or very gradually increased diameters in about 20th-30th ring number from pith. In the latewood, tangential pore diameters gradually increased from pith to outwards though the increment is smaller than in early wood. Radial variations of ray height and width maintained almost constant, gradually increased or rapidly increased diameters and then maintained almost constant from pith to outwards. Patterns of radial variations in the fiber length were almost coincident with patterns of earlywood pore diameters, and of ray height or width in Ulmus japonica and Maackia amurensis.

• Journal of applied mathematics & informatics
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• v.4 no.2
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• pp.545-553
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• 1997

By using the decreasing rearrangement of nonoverlapping subintervals of a closed bounded intervals and L.C.young's series for two ø-sequences we obtain some results concerning Riemann-Stieltijes integrals of functions of $\textsc{k}{\phi}-bounded$ variations.

• Journal of applied mathematics & informatics
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• v.14 no.1_2
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• pp.493-498
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• 2004

In this paper, we try to construct the variation of the Green's function and investigate some operator properties of the Green's function. Also, we discuss the variation of the operator of the Green's function G(x, t) when the operator is varied.

• Journal of Biomedical Engineering Research
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• v.22 no.2
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• pp.197-204
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• 2001

• 한국해양학회지
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• v.5 no.1
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• pp.14-29
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• 1970

Tidal variations of various chemical constituents in the laver bed sea waters in Wan Do Gun were determined over one spring tidal cycle from Oct. 1968 to Feb. 1969. Total ranges and means of the contents at Pyung-il Do and Wan Do are as follows. Although the average monthly variations of each content at Pyung-il Do were similar to those at Wan Do, most of the contents at Pyung-il Do were at a slightly higher level than at Wan Do. The values of silicate-silicon, phosphate- phosphorus and soluble iron, however, showed high levels at Wan Do. Chlorinity, magnesium, calcium, dissolved oxygen, silicate-silicon and phosphate-phosphorus contents increased from Oct. 1968 to Feb. 1969, though the content of soluble iron decreased before December and slightly increased in January and February. The average monthly variations of ammonia-nitrogen and nitrate-nitrogen contents were irregular. The nitrite-nitrogen content appeared in trace amounts in the months with a comparatively high water temperature, i.e., October and November, but in midwinter it was undetected. The ranges of the tidal variations of the contents of each chemical constituent were not significantly wide, though the contents varied excessively by the hour, and this may show the irregularity of the water quality in Wan Do Gun coastal area. As a rule, no regular tidal variation of the chlorinity was observed except slightly decreased value at ebb tide at Wan Do. In general, although the pattern of the variations of calcium and magnesium contents were similar to that of the chlorinity, no definite relationships between these constituents and chlorinity were observed. Tidal variations of the dissolved oxygen content, nutrient salts and soluble iron were irregular.

• Investigative Magnetic Resonance Imaging
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• v.21 no.1
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• pp.28-33
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• 2017

Purpose: To investigate and compensate the effects of respiration-induced B0 variations on fat quantification of the bone marrow in the lumbar spine. Materials and Methods: Multi-echo gradient echo images with navigator echoes were obtained from eight healthy volunteers at 3T clinical scanner. Using navigator echo data, respiration-induced B0 variations were measured and compensated. Fat fraction maps were estimated using $T2^*$-IDEAL algorithm from the uncompensated and compensated images. For manually drawn bone marrow regions, the estimated B0 variations and the calculated fat fractions (before and after compensations) were analyzed. Results: An increase of temporal B0 variations from inferior level to superior levels was observed for all subjects. After compensation using navigator echo data, the effects of the B0 variations were reduced in gradient echo images. The calculated fat fractions show significant differences (P < 0.05) in L1 and L3 between the uncompensated and the compensated. Conclusion: The results of this study raise the need for considering respiration-induced B0 variations for accurate fat quantification using gradient echo images in the lumbar spine. The use of navigator echo data can be an effective way for the reduction of the effects of respiratory motion on the quantification.