Double Bright Band Observations with High-Resolution Vertically Pointing Radar, Lidar, and Profiles

On 11 May 2010, an elevated temperature inversion associated with an approaching warm front produced two melting layers simultaneously, which resulted in two distinct bright bands as viewed from the ER-2 Doppler radar system, a vertically pointing, coherent X band radar located in Greenbelt, MD. Due to the high temporal resolution of this radar system, an increase in altitude of the melting layer of approximately 1.2 km in the time span of 4 min was captured. The double bright band feature remained evident for approximately 17 min, until the lower atmosphere warmed enough to dissipate the lower melting layer. This case shows the relatively rapid evolution of freezing levels in response to an advancing warm front over a 2 h time period and the descent of an elevated warm air mass with time. Although observations of double bright bands are somewhat rare, the ability to identify this phenomenon is important for rainfall estimation from spaceborne sensors because algorithms employing the restriction of a radar bright band to a constant height, especially when sampling across frontal systems, will limit the ability to accurately estimate rainfall

Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements [RETRACTED]

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age ≥25 years. Available microarray data enabled direct comparison of polygenic risk for schizophrenia between 22q11.2DS and independent population samples with no 22q11.2 deletion, with and without schizophrenia (total n = 35,182). Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (padj = 6.73 × 10−6). Novel reciprocal case–control comparisons between the 22q11.2DS and population-based cohorts showed that polygenic risk score was significantly greater in individuals with psychotic illness, regardless of the presence of the 22q11.2 deletion. Within the 22q11.2DS cohort, results of gene-set analyses showed some support for rare variants affecting synaptic genes. No common or rare variants within the 22q11.2 deletion region were significantly associated with schizophrenia. These findings suggest that in addition to the deletion conferring a greatly increased risk to schizophrenia, the risk is higher when the 22q11.2 deletion and common polygenic risk factors that contribute to schizophrenia in the general population are both present

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Abstract Background The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing. Since short read massive parallel sequencing approaches do not allow the detection of larger tandem repeat expansions, we hypothesized that such expansions could be a hidden cause of X-linked intellectual disability. Methods We selectively captured over 1800 tandem repeats on the X chromosome and characterized them by long read single molecule sequencing in 3 families with idiopathic X-linked intellectual disability. Results In male DNA samples, full tandem repeat length sequences were obtained for 88–93% of the targets and up to 99.6% of the repeats with a moderate guanine-cytosine content. Read length and analysis pipeline allow to detect cases of > 900 bp tandem repeat expansion. In one family, one repeat expansion co-occurs with down-regulation of the neighboring MIR222 gene. This gene has previously been implicated in intellectual disability and is apparently linked to FMR1 and NEFH overexpression associated with neurological disorders. Conclusions This study demonstrates the power of single molecule sequencing to measure tandem repeat lengths and detect expansions, and suggests that tandem repeat mutations may be a hidden cause of X-linked intellectual disability

The Relative Importance of Random Error and Observation Frequency in Detecting Trends in Upper Tropospheric Water Vapor

Recent published work assessed the amount of time to detect trends in atmospheric water vapor over the coming century. We address the same question and conclude that under the most optimistic scenarios and assuming perfect data (i.e., observations with no measurement uncertainty) the time to detect trends will be at least 12 years at approximately 200 hPa in the upper troposphere. Our times to detect trends are therefore shorter than those recently reported and this difference is affected by data sources used, method of processing the data, geographic location and pressure level in the atmosphere where the analyses were performed. We then consider the question of how instrumental uncertainty plays into the assessment of time to detect trends. We conclude that due to the high natural variability in atmospheric water vapor, the amount of time to detect trends in the upper troposphere is relatively insensitive to instrumental random uncertainty and that it is much more important to increase the frequency of measurement than to decrease the random error in the measurement. This is put in the context of international networks such as the Global Climate Observing System (GCOS) Reference Upper-Air Network (GRUAN) and the Network for the Detection of Atmospheric Composition Change (NDACC) that are tasked with developing time series of climate quality water vapor data

Lidar Profiling In the lower Troposphere: experience from PECAN

Results from the PECAN (Plains Elevated Convection at Night) campaign are discussed. In particular, the utility of simple backscatter lidars/ceilometers in quantifying atmospheric dynamics parameters and variables as well as evolution of the lower tropospheric dynamics are made. Cases of bore wave dynamics and the potential of these events in lofting of low level, moist, airmass and its consequence in thunderstorm initiation are made. A suite of thermodynamic profiling instruments are combined and compared to describe and visualize lower tropospheric dynamic evolution