8 research outputs found
Boxplots of Genomic Variants Frequency (GVF) and coefficient of variation of Relative Read Counts (cv.RTC).
<p>(A) Boxplots of log2(GVF+1) for regions with high cv.RTC (above 95% quantile of the cv.RTC of all regions on chromosome 5) and low cv.RTC (below 95% quantile of cv.RTC) in maternal plasma control libraries on chromosome 5 (representative). (B) Boxplot of cv.RTC of the maternal plasma control libraries for regions with high GVF (above 95% quantile of the GVF of all regions on chromosome 5) and low GVF (below 95% quantile of GVF) on chromosome 5 (representative).</p
GCREM Tests of Chromosome 5 Microdeletion.
<p>(A) GCREM test of the maternal plasma library (data is from 1 of a total of 13 HiSeq 2000 lanes) from the first pregnancy. (B) GCREM test of the fetal amniocyte library from the first pregnancy. (C) GCREM test of the maternal genomic libraries (data is from 4 HiSeq 2000 lanes) from the first pregnancy. (D) GCREM test of the maternal plasma library from the second pregnancy (PL1694). (E) GCREM test of the paternal genomic (leukocyte-derived) library (pat741). For all plots, Y axis is the difference between observed RTC and expected RTC. Positive values mean potential gain, negative values mean potential loss. X axis is the position on the chromosome. Each horizontal bar represents a 150kb region. Dotted lines are standard deviation of the expected RTC.</p
The 25%, 50%, 75%, and 97.5% quantiles of the coefficient of variation of RTC in chromosome 5.
<p>For CVS, the coefficient of variations were estimated from 6 libraries. For maternal plasma, the coefficient of variations were estimated from fifteen libraries unrelated to the CVS samples.</p
Plots of Coefficient of Variation of the Relative Read Count (cv.RTC) for Chromosome 5.
<p>(A) The cv.RTC of the 50kb regions in the CVS control libraries (y axis) against that in the maternal plasma control libraries (x axis) for chromosome 5. (B) The cv.RTC of the 50kb regions in the plasma control libraries (y axis) against the log2(GVF+1) of the 50kb regions reported in the DGV database (x axis) for chromosome 5. (C) The cv.RTC of the 50kb regions in the CVS control libraries (y axis) against the log2(GVF+1) of the 50kb regions reported in the DGV database (x axis) for chromosome 5. In all three plots, red dots represent 50kb regions around the microdeletion (see Fig 3), black dots represent other 50kb regions in chromosome 5.</p
FST results with two colors under dark-adapted conditions and on a range of white and chromatic backgrounds.
<p>(A,B) FST-TVI with blue (A) and red (B) stimuli on white backgrounds in BCM patients and normals. Gray region defines the expected desensitization of the rod system. Rectangles define the data further explored in panels C-F. (C-F) Comparison of thresholds with chromatic and white backgrounds; blue stimuli on white (BonW) or yellow (BonY), and red stimuli on white (RonW) or on blue (RonB) backgrounds are shown. Different panels show the effectiveness of the background for the scotopic (C,D), S-cone (E) and photopic (F) systems. Lines with unity slope are fit to the data, and offset between the lines is shown in log units. (G,H) Sensitivity loss and predicted photoreceptor mediation using a pair of RonW and RonB FST thresholds. Both individual results and group averages (Avg) are shown. Error bars, when visible, are ±1SD.</p
Nystagmus and foveal function in BCM.
<p>(A) Fixation locations in a normal subject and 3 BCM patients. For each subject, 10 s long epochs of eye movement data during fixation to a large visible red target (Target I) are shown in spatial (left) and spatio-temporal (right) coordinates. Spatial distribution of fixation clouds are shown on infrared SLO images of each macula with standard circles centered on the anatomical foveal depression. Spatio-temporal distribution of eye movements are shown on chart records for X and Y directions; up is nasal retina for X and superior retina for Y. All results are presented as equivalent right eyes for comparability. Horizontal dashed lines on the chart records depict the location of the anatomical fovea. (B) Fixation location and instability in BCM patients as a function of the bright red standard target (I), a green target (II) scotopically-matched to the standard target but expected to show greater visibility to S-cones, and a dim red target (III). N.S., not significant; *, P<0.05. (C) Distribution of fixation locations with the standard target in all patients. I = inferior, N = nasal, S = superior, and T = temporal retina. (D) Fixation location and instability as a function of best-corrected visual acuity. (E) Test pattern used with microperimetric stimuli to evaluate visual function under chromatic adaptation displayed on a normal near-infrared reflectance image. Stimulus locations are divided into 5 groups; f, foveal region, s, superior, i, inferior, t, temporal and n, nasal retina. (F,G) Sensitivities to blue stimuli on yellow background (BonY) and red stimuli on cyan background (RonC) in individual BCM patients (bars left to right; P2, P3, P4, P6, P8, P9, P10, P15, P16, P17, P18, P20, P25, P26, P28, and P29) compared to normal results (symbols; mean ±1sd) at the five regions shown in panel E. BCM results plotted below the zero line in Panel G represent those cases where the brightest available stimulus was not seen.</p
Spectral sensitivity functions in normal subjects and BCM patients recorded at 14° superior field.
<p>(A) Sensitivities (mean±1 SD) to six spectrally distinct stimuli in normal subjects (n = 3) under dark-adapted (left), and on 1 (middle) and 10 cd.m<sup>-2</sup> (right) white backgrounds. (B) Sensitivities to the spectrally distinct stimuli in BCM patients for the same three adaptation conditions as in Panel A. Results from P8 are shown at the correct ordinate location; results from remaining patients have been adjusted by 1 log increments for visibility. Theoretical functions describing rod (green), S cone (blue), L/M cone (orange) sensitivities are shown after vertical shifts to fit relevant normal and BCM data in Panels A and B. (C) Comparison of individual normal and BCM sensitivities at 500 nm. (D,E) Comparison of individual normal and BCM sensitivities at 440, 500 and 560 nm. Symbols in Panels C, D, and E are painted by colors derived from the fit of theoretical functions to the spectral data. N = normal, B = BCM.</p
Visual fields of BCM patients evaluated with kinetic and static perimetry.
<p>(A) Light-adapted (LA) vertical sensitivity profiles from a normal subject and a BCM patient using achromatic (black line) and 600-nm (orange line) stimuli on a 10 cd.m<sup>-2</sup> white background, or 440-nm (blue line) stimuli on a yellow background (YB). (B) S-cone sensitivity profiles (filled circles) of the BCM patients using a 440-nm stimulus on YB compared to normal limits (gray = ±2SD). (C) LA white vertical sensitivity profiles of BCM patients (filled circles) compared to normal (gray). Blue line is the S-cone sensitivities from Panel C shifted according to the difference in effectiveness between the white and 440-nm stimuli. (D) LA 600-nm vertical sensitivity profiles of BCM patients (filled circles) compared to normal (gray). (E) Sensitivity differences between LA white and LA 600-nm stimuli are shown for the BCM patients (filled circles) and normal (unfilled circles). Predicted differences for rod (green dashes) and L/M cone (orange dashes) mediation are shown. (F) Dark-adapted (DA) vertical sensitivity profiles from a normal subject and a BCM patient using 500-nm (green line) and 650-nm (red line) stimuli. Above the results it is shown whether there is rod (R) or mixed (M) mediation, as determined by the differences between sensitivities to the stimuli. (G) DA 500-nm vertical sensitivity profiles of BCM patients (filled circles) compared to normal (gray). (H) DA 650 nm vertical sensitivity profiles of BCM patients (filled circles) compared to normal (gray). (I) Sensitivity differences between DA 500- and DA 650-nm stimuli are consistent with rod mediation (gray) at all locations except for the normal results with 650 nm at fixation. S, superior; I, inferior. (J) DA 650-nm sensitivities at fixation in normal and BCM. Normal 650-nm sensitivities are mediated by the L/M cones (C) whereas BCM sensitivities are mediated by the rods (R). Error bars are ±1SD.</p