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The aim of this study is to investigate the effect of the chimeric intron in different directions on the expression of the nerve growth factor (NGF) in recombinant Chinese hamster ovary (CHO) cells. The chimeric intron that contained the splice sequence of the first intron of the human β-globin and the human immunoglobulin heavy chain variable region intron was used. NGF gene was cloned into the expression vectors containing the chimeric intron in the forward or reverse direction, followed by transfecting into CHO cells, and screened under G418 to produce the stable transfected CHO cells. Fluorescence quantitative PCR, ELISA, and Western blotting were performed to detect the recombinant NGF gene expression in CHO cells. The results showed that the chimeric introns could significantly enhance the expression of NGF in recombinant CHO cells. Moreover, the enhancing effect on NGF expression level by the intron in the forward direction showed stronger than that of the reverse direction both at mRNA and protein level. In conclusion, the chimeric intron could increase NGF expression in stably transfected CHO cells and the effect is associated with the direction of the intron insertion.为了研究不同方向的嵌合体内含子对重组神经生长因子 (Nerve growth factor，NGF) 基因表达的影响，以人β-珠蛋白第一内含子5ʹ端剪接序列和人免疫球蛋白重链可变区内含子3ʹ端剪接序列组合而成的嵌合体内含子作为研究对象，在NGF 基因5ʹ端插入不同方向的嵌合体内含子，构建含不同方向内含子的NGF 基因表达载体。转染至CHO 细胞后，G418 筛选稳定转染的细胞，荧光定量PCR、ELISA 和Western blotting 检测不同载体NGF基因的表达情况。结果显示内含子可以大幅度提高NGF 基因的表达，且正向内含子对NGF 基因表达的增强作用无论是在mRNA 水平还是在蛋白水平都要高于反向内含子。所以内含子能够提高外源NGF 基因的表达，且内含子调控转基因表达具有方向性。.

Capacitive ECG (cECG), a technique older than 50, is able to replace the gold standard ECG only in certain applications where unobtrusiveness and conformity are aimed at the expense of reduced signal quality. Triboelectric surface charges, motion artifacts, and resulting time-variant coupling capacitances are among the reasons for the signal deformations in cECG. In this paper, the mechanical vibrations of the human body are proposed as the source of time-variant coupling capacitances causing motion artifacts, which questions the applicability of adaptive filtering approaches to the problem of time-variant coupling capacitance. Ballistocardiogram (BCG) measurements on cECG electrodes are recorded and analyzed to investigate how these mechanical vibrations reflect on a differential biopotential measurement. Furthermore, using measured signals in a human experiment, numerical and test bench simulations were conducted to replicate how triboelectric surface charges might cause deformation on cECG signals.

The original version of this Article contained errors in Figures 1, 3 and 4. In panels b and d of Figure 1, the labels ‘Sdc4-/-’ were inadvertently replaced by ‘Sdc4+/+‘. In panels c and d of Figure 3, the labels ‘Sdc4-/-’ were replaced by ‘Sdc2-/-’. In panel f of Figure 3, the labels ‘FGF2’ were replaced by ‘VEGFA165’. In panel e of Figure 6, a ‘Sdc2-/-‘ label was inadvertently included. This has now been corrected in the PDF and HTML versions of the Article.

Among 300 advanced cancer patients with potential urinary tract infection (UTI), 19 had symptomatic UTI. Among remaining patients (n = 281), 21% had asymptomatic bacteriuria or candiduria, and 14% received inappropriate therapy for 279 antimicrobial days. Bacteriuria or candiduria predicted antimicrobial therapy. At 10,000 to

Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We conducted a pilot study for SPARK (SPARKForAutism.org) of 457 families with ASD, all consented online. Whole exome sequencing (WES) and genotyping data were generated for each family using DNA from saliva. We identified variants in genes and loci that are clinically recognized causes or significant contributors to ASD in 10.4% of families without previous genetic findings. Additionally, we identified variants that are possibly associated with autism in an additional 3.4% of families. A meta-analysis using the TADA framework at a false discovery rate (FDR) of 0.2 provides statistical support for 34 ASD risk genes with at least one damaging variant identified in SPARK. Nine of these genes (BRSK2, DPP6, EGR3, FEZF2, ITSN1, KDM1B, NR4A2, PAX5 and RALGAPB) are newly emerging genes in autism, of which BRSK2 has the strongest statistical support as a risk gene for autism (TADA q-value = 0.0015). Future studies leveraging the thousands of individuals with ASD that have enrolled in SPARK are likely to further clarify the genetic risk factors associated with ASD as well as allow accelerate autism research that incorporates genetic etiology.

CSDE1 disruptive mutations are associated with autism., RNA binding proteins are key players in posttranscriptional regulation and have been implicated in neurodevelopmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely gene-disrupting variants in CSDE1 (encoding a highly constrained RNA binding protein) among patients with autism and related neurodevelopmental disabilities. Analysis of 17 patients identifies common phenotypes including autism, intellectual disability, language and motor delay, seizures, macrocephaly, and variable ocular abnormalities. HITS-CLIP revealed that Csde1-binding targets are enriched in autism-associated gene sets, especially FMRP targets, and in neuronal development and synaptic plasticity–related pathways. Csde1 knockdown in primary mouse cortical neurons leads to an overgrowth of the neurites and abnormal dendritic spine morphology/synapse formation and impaired synaptic transmission, whereas mutant and knockdown experiments in Drosophila result in defects in synapse growth and synaptic transmission. Our study defines a new autism-related syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission.

Background We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genotype–phenotype correlations of likely gene-disrupting (LGD) mutations for autism candidate genes originally identified in cohorts of European descent. Methods We sequenced 187 autism candidate genes in an additional 784 probands and 85 genes in 599 probands using single-molecule molecular inversion probes. We tested the inheritance of potentially pathogenic mutations, performed a meta-analysis of phase I and phase II data and combined our results with existing exome sequence data to investigate the phenotypes of carrier parents and patients with multiple hits in different autism risk genes. Results We validated recurrent, LGD, de novo mutations (DNMs) in 13 genes. We identified a potential novel risk gene (ZNF292), one novel gene with recurrent LGD DNMs (RALGAPB), as well as genes associated with macrocephaly (GIGYF2 and WDFY3). We identified the transmission of private LGD mutations in genes predominantly associated with DNMs and showed that parental carriers tended to share milder autism-related phenotypes. Patients that carried DNMs in two or more candidate genes show more severe phenotypes. Conclusions We identify new risk genes and transmission of deleterious mutations in genes primarily associated with DNMs. The fact that parental carriers show milder phenotypes and patients with multiple hits are more severe supports a multifactorial model of risk. Electronic supplementary material The online version of this article (10.1186/s13229-018-0247-z) contains supplementary material, which is available to authorized users.

Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios). We report an 11-fold increase in the odds of DN LGD mutations compared with expectation under an exome-wide neutral model of mutation. In aggregate, ∼4% of ASD patients carry a DN mutation in one of just 29 autism risk genes. The most prevalent gene for recurrent DN mutations is SCN2A (1.1% of patients) followed by CHD8, DSCAM, MECP2, POGZ, WDFY3 and ASH1L. We identify novel DN LGD recurrences (GIGYF2, MYT1L, CUL3, DOCK8 and ZNF292) and DN mutations in previous ASD candidates (ARHGAP32, NCOR1, PHIP, STXBP1, CDKL5 and SHANK1). Phenotypic follow-up confirms potential subtypes and highlights how large global cohorts might be leveraged to prove the pathogenic significance of individually rare mutations., Recurrent sporadic mutations are important risk factors for autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, Eichler, Xia and colleagues analyse risk genes in a large Chinese ASD cohort and find novel recurrences of potential pathogenic significance.

The second member of the Middle Jurassic Shaximiao Formation in the rejuvenated Western Sichuan Foreland Basin contains tens of metres of thick incised valley successions. Incised valleys have been widely discussed in traditional models; however, quantitative and detailed analyses of geometric variations and their interpreted controls on ancient incised valleys have rarely been attempted in the past. Using an integrated dataset of seismic profiles, well logs and cores, this study quantifies the geometric parameters of incised valleys and investigates the smaller-scale depositional patterns. (1) During this period, incised valleys (IV) were 5–17 km wide, 20–60 m deep and traceable for 120 km along their axis, placing these valleys among the longest seismically imaged incised valleys in the world. (2) Three nested incised valley successions IV-1, IV-2 and IV-3 can be identified. Except for IV-2, the incised valleys decrease in width and depth downstream. (3) In the downstream segment, the role of tectonism diminishes gradually, and periodic base-level changes control the form and evolution of the incised valleys. A downstream decrease in the stream power appears to be responsible for the decreasing trend in the incised valley geometry. Copyright © 2016 John Wiley & Sons, Ltd.

We report that the coupling of methane dehydroaromatization (MDA) and methanol methylation over a Mo/HZSM-5 catalyst can realize the direct conversion of methane to benzene, toluene, and xylene (BTX) with long-time steady state (60 h), higher activity (26.4%), and selectivity of BTX (>90%) at atmospheric pressure and 973 K. Based on characterization, it was confirmed that the formed benzene can be effectively methylated by methanol, leading to high activity and stability, which proves that the coke from polycondensation of the formed benzene results in rapid deactivation of MDA.

Designing an exceptional probe to detect minute quantities of melamine is of huge importance for the safety and health of the human race. In this study, an aquamarine blue and rapid fluorescent sensor was devised by chemical reduction synthesis method for highly selective and sensitive detection of melamine in milk using polyethyleneimine protected silver nanoparticles (PEI-AgNPs). The optical properties of PEI-AgNPs were studied as a function of reactive material concentration, incubation time, temperature and pH. The formation of PEI-AgNPs was verified by using transmission electron microscopy (TEM) and found that the PEI-AgNPs were spherical in shape with an average diameter of 15 nm. The prepared PEI-AgNPs were aquamarine blue luminescent under UV light and show a maximum emission at 470 nm, when excited at 348 nm. The fluorescence of the PEI-AgNPs can be effectively quenched by the addition of melamine due to its ability to interact with citric acid (CA) through hydrogen bonding and form silver-melamine complexes with Ag+ via coordination bonds, while the addition of other nitro compounds induced feeble quenching of PEI-AgNPs, suggesting the high selectivity of PEI-AgNPs. The present sensor system exhibits a good linear response to melamine ranging from 0.16 to 56 μM, and the limit of detection was found to be 132 nM (Sb/K = 3). Significantly, the fluorescence sensor exhibited good selectivity and acted as a potential probe for detection of melamine in milk samples.

Aim and Objective: There are several diseases having a complicated mechanism. For such complicated diseases, a single drug cannot treat them very well because these diseases always involve several targets and single targeted drugs cannot modulate these targets simultaneously. Drug combination is an effective way to treat such diseases. However, determination of effective drug combinations is time- and cost-consuming via traditional methods. It is urgent to build quick and cheap methods in this regard. Designing effective computational methods incorporating advanced computational techniques to predict drug combinations is an alternative and feasible way. Method: In this study, we proposed a novel network embedding method, which can extract topological features of each drug combination from a drug network that was constructed using chemical-chemical interaction information retrieved from STITCH. These topological features were combined with individual features of drug combination reported in one previous study. Several advanced computational methods were employed to construct an effective prediction model, such as synthetic minority oversampling technique (SMOTE) that was used to tackle imbalanced dataset, minimum redundancy maximum relevance (mRMR) and incremental feature selection (IFS) methods that were adopted to analyze features and extract optimal features for building an optimal support machine vector (SVM) classifier. Results and Conclusion: The constructed optimal SVM classifier yielded an MCC of 0.806, which is superior to the classifier only using individual features with or without SMOTE. The performance of the classifier can be improved by combining the topological features and essential features of a drug combination.

Existing sparse recovery techniques usually require target to be located on the calculated grid at the very beginning in FD-MIMO radar, otherwise they would fail. In this paper, we propose a sparse imaging method to deal with on-grid and off-grid scatterers by operating simultaneous annihilating filter (SAF) in range dimension and then applying annihilating filter (AF) in angle dimension. Simulation results confirm the effectiveness of our method.

The estimation of two-dimensional (2-D) direction-of-arrival (DOA), i.e. elevation (6) and azimuth ($\varphi$) angles for the same sources, by using L-shaped array is an open research region. During recent years, many methods addressing this problem have emerged. Although the methods introduced in literatures may perform well in many scenarios, most of them will fail in the “1-D merging” scenarios that two or more sources have the same 6 or $\sin\theta\cos\varphi$, which may occasionally happen when we monitoring multiple realtime moving space targets. A DOA estimation method addressing this issue for L-shaped array is developed, which can estimate elevation and azimuth angles simultaneously. The proposed method not only achieves automatic pair-matching, but also realizes source demerging for “1-D merging” scenarios. The estimation performance is verified by numerical simulations, and the results show that the proposed method can resolve sources in various scenarios (including the “1-D merging” scenarios) and provide better estimation accuracy compared with the existing ones.

In this paper, passive radar detection based on global star is studied. Firstly, we analyze the characteristic of the global star signal, including the spectrum, ambiguity function. Then, the link budget of global star passive radar is calculated according to radar equation. Finally, we propose a sparse target detection method, which can deal with the problems such as width main-lobe and high side-lobe which are usually existing in the conventional matched filtering (MF)-based detection methods. Simulation results verify the effectiveness of the proposed method and related analysis.

Conventional radar detection methods have been based on the ambiguous function processing of direct channel signals and echo channel signals (ie, matched filtering techniques), which tends to cause problems such as width main-lobe and high side-lobe detection results. Since the number of targets to be detected is usually much smaller than the number of resolution units in the observation areas, the requirement of signal sparsity for compressive sensing (CS) theory is satisfied naturally. Therefore, a target detection method based on CS is proposed in this paper, which can obtain better target detection performance. Simulation results verify the effectiveness of the proposed method.

Figure S6. Distribution of mutations in some of the top mutated genes (DYRK1A, ASXL3, WDFY3 and MECP2) in the ACGC cohort (above) compared to previously published LGD and missense DNMs identified in the SSC and ASC cohorts. (PDF 896 kb)

Figure S5. Distribution of missense mutations in SCN2A and CHD8. a. Missense DNMs in SCN2A are mainly located in the ion transport domain. Three recurrent missense DNM sites were identified at R937 (4), R379 (2), and G1744 (2). b. Distribution of missense DNMs in CHD8. One recurrent missense DNM site was identified at M904. c. The overall CADD score distributions of the missense DNMs within SCN2A and CHD8 are significantly higher than the distribution of rare missense mutations of SCN2A and CHD8 from ExAC. P values were corrected for the two tests. (PDF 1001 kb)

Figure S3. Fraction of target based on >â 8-fold sequence coverage by gene. Box and whisker plots show the fraction of a sampleâ s target bases at 8X or greater coverage split by gene. All capture samples are included (along with QC failures). (PDF 109 kb)

Figure S2. QC of MIPs cohort. QC analysis of the percentage of MIPs with at least eight reads per sample. (PDF 84 kb)

Figure S4. Distribution of DNMs for SCN2A and CHD8. LGD (red) and missense (blue) DNMs with respect to the protein model in the ACGC cohort (above the protein model) are compared to previously published DNMs (below the model) primarily from European cohorts. â DNMs unique to Phase II samples; *DNMs from SSC and ASC cohorts. (PDF 931 kb)

In this paper, a novel autofocus imaging method is proposed to achieve high-resolution for inverse synthetic aperture radar (ISAR) in the compressive sensing (CS) framework. Firstly, we fomulate the ISAR CS imaging in a Multiple Measurement Vector (MMV) sparse optimization problem. Then, by utilizing the structure sparsity of ISAR image, i.e. row sparsity and column sparsity simutaneously, our method is derived. Compared with traditional imaging methods using Single Measurement Vector (SMV) signal mode, the proposed method further combines the joint sparse information of target image, therefore can improve the autofocus imaging quality efficiently. Experimental results verify the effectiveness of the proposed method.

Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,688 patients with NDD identified 21 new patients with identical missense mutations. One recurrent site substitution (p.A636T) occurs in a glutamate receptor subunit, GRIA1. This same amino acid substitution in the homologous but distinct mouse glutamate receptor subunit Grid2 is associated with Lurcher ataxia. Phenotypic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabilities and autism. Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology.

A novel high-resolution inverse synthetic aperture radar (ISAR) imaging method using homotopic non-convex regularization technique is proposed in this paper. Compared with exsiting compressive sensing (CS) based imaging methods, the proposed method can deal well with off-grid scatterers in the imaging scene, besides it has low computational complexity, therefore has potential to be applied in practice. Experimental results with B727 data show the effectiveness of related analysis.

Inspired by biological related parts, Schiff base derivatives and functional groups of chemical modification can provide efficient detection method of amino acids. Therefore, we have designed and prepared 4 compounds based on Schiff base derivatives involving ─NO2 , ─OH, and naphthyl group. Results indicated that compound 4 containing 2 nitro groups showed strong sensitivity and high selectivity for arginine (Arg) among normal 18 kinds of standard amino acids (alanine, valine, leucine, isoleucine, methionine, aspartic acid, glutamic acid, arginine, glycine, serine, asparagine, phenylalanine, histidine, tryptophan, proline, lysine, glutamine, and cysteine). Theoretical investigation also approved the strong binding ability of compound 4 for Arg. In addition, compound 4 displayed high combining ability of Arg and low cytotoxicity of MCF-7 cell in the 0 to 150 μg mL-1 of concentration range; it can be used for Arg in vivo detection of fluorescent probe.

Item does not contain fulltext Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.

Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with high heritability, although the underlying genetic determinants of ASDs remain largely unknown. Large-scale whole-genome studies of copy number variation in Han Chinese samples are still lacking. We performed a genome-wide copy number variation analysis of 343 ASD trios, 203 patients with sporadic cases and 988 controls in a Chinese population using Illumina genotyping platforms to identify CNVs and related genes that may contribute to ASD risk. We identified 32 rare CNVs larger than 1 Mb in 31 patients. ASD patients were found to carry a higher global burden of rare, large CNVs than controls. Recurrent de novo or case-private CNVs were found at 15q11-13, Xp22.3, 15q13.1–13.2, 3p26.3 and 2p12. The de novo 15q11–13 duplication was more prevalent in this Chinese population than in those with European ancestry. Several genes, including GRAMD2 and STAM, were implicated as novel ASD risk genes when integrating whole-genome CNVs and whole-exome sequencing data. We also identified several CNVs that include known ASD genes (SHANK3, CDH10, CSMD1) or genes involved in nervous system development (NYAP2, ST6GAL2, GRM6). Besides, our study also implicated Contactins-NYAPs-WAVE1 pathway in ASD pathogenesis. Our findings identify ASD-related CNVs in a Chinese population and implicate novel ASD risk genes and related pathway for further study.

Autism is a childhood neurodevelopmental disorder with high heterogeneity. Following our genome-wide associated loci with autism, we performed sequencing analysis of the coding regions, UTR and flanking splice junctions of AMPD1 in 830 Chinese autism individuals as well as 514 unrelated normal controls. Fourteen novel variants in the coding sequence were identified, including 11 missense variants and 3 synonymous mutations. Among these missense variants, 10 variants were absent in 514 control subjects, and conservative and functional prediction was carried out. Mitochondria activity and lactate dehydrogenase assay were performed in 5 patients' lymphoblast cell lines; p.P572S and p.S626C showed decreased mitochondrial complex I activity, and p.S626C increased lactate dehydrogenase release in medium. Conclusively, our data suggested that mutational variants in AMPD1 contribute to autism risk in Han Chinese population, uncovering the contribution of mutant protein to disease development that operates via mitochondria dysfunction and cell necrosis.

Background High myopia, with the characteristic feature of refractive error, is one of the leading causes of blindness worldwide. It has a high heritability, but only a few causative genes have been identified and the pathogenesis is still unclear. Methods We used whole genome linkage and exome sequencing to identify the causative mutation in a non-syndromic high myopia family. Direct Sanger sequencing was used to screen the candidate gene in additional sporadic cases or probands. Immunofluorescence was used to evaluate the expression pattern of the candidate gene in the whole process of eye development. Real-time quantitative PCR and immunoblot was used to investigate the functional consequence of the disease-associated mutations. Results We identified a nonsense mutation (c.141C>G:p.Y47*) in SLC39A5 co-segregating with the phenotype in a non-syndromic severe high myopia family. The same nonsense mutation (c.141C>G:p.Y47*) was detected in a sporadic case and a missense mutation (c.911T>C:p.M304T) was identified and co-segregated in another family by screening additional cases. Both disease-associated mutations were not found in 1276 control individuals. SLC39A5 was abundantly expressed in the sclera and retina across different stages of eye development. Furthermore, we found that wild-type, but not disease-associated SLC39A5 inhibited the expression of Smadl, a key phosphate protein in the downstream of the BMP/TGF-β (bone morphogenic protein/transforming growth factor-β) pathway. Conclusions Our study reveals that loss-of-function mutations of SLC39A5 are associated with the autosome dominant non-syndromic high myopia, and interference with the BMP/TGF-β pathway may be one of the molecular mechanisms for high myopia.

In recent years, various applications regarding sparse continuous signal recovery such as source localization, radar imaging, communication channel estimation, etc., have been addressed from the perspective of compressive sensing (CS) theory. However, there are two major defects that need to be tackled when considering any practical utilization. The first issue is off-grid problem caused by the basis mismatch between arbitrary located unknowns and the pre-specified dictionary, which would make conventional CS reconstruction methods degrade considerably. The second important issue is the urgent demand for low-complexity algorithms, especially when faced with the requirement of real-time implementation. In this paper, to deal with these two problems, we have presented three fast and accurate sparse reconstruction algorithms, termed as HR-DCD, Hlog-DCD and Hlp-DCD, which are based on homotopy, dichotomous coordinate descent (DCD) iterations and non-convex regularizations, by combining with the grid refinement technique. Experimental results are provided to demonstrate the effectiveness of the proposed algorithms and related analysis.

We isolated the matrix attachment region-binding protein (MBP) DMBP-1 fromDunaliella salinain our previous studies. MBPs are part of the cis-acting protein family cluster. The regulatory function possibly works through the interaction of the MBPs with each other. In the present study, DMBP-1 was used as the bait in screening theD. salinacDNA library for DMBP-1 interactors that could potentially mediate the DMBP-1-regulated functions. A novel MBP, namely, DMBP-2, was identified as a DMBP-1 binding partner. The cDNA of DMBP-1 was 823 bp long and contained a 573 bp open reading frame, which encoded a polypeptide of 191 amino acids. The interaction between DMBP-2 and DMBP-1 was further confirmed through glutathione S-transferase pull-down assays.

Autism spectrum disorder (ASD) represents a set of complex neurodevelopmental disorders with large degrees of heritability and heterogeneity. We sequenced 136 microcephaly or macrocephaly (Mic-Mac)-related genes and 158 possible ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations (DNMs) in 20 genes, including CHD8 and SCN2A, with recurrent events. Nine of the 20 genes were previously reported to harbor DNMs in ASD patients from other populations, while 11 of them were first identified in present study. We combined genetic variations of the 294 sequenced genes from publicly available whole-exome or whole-genome sequencing studies (4167 probands plus 1786 controls) with our Chinese population (536 cases plus 1457 controls) to optimize the power of candidate-gene prioritization. As a result, we prioritized 67 ASD-candidate genes that exhibited significantly higher probabilities of haploinsufficiency and genic intolerance, and significantly interacted and co-expressed with each another, as well as other known ASD-risk genes. Probands with DNMs or rare inherited mutations in the 67 candidate genes exhibited significantly lower intelligence quotients, supporting their strong functional impact. In addition, we prioritized 39 ASD-related Mic-Mac-risk genes, and showed their interaction and co-expression in a functional network that converged on chromatin remodeling, synapse transmission and cell cycle progression. Genes within the three functional subnetworks exhibited distinct and recognizable spatiotemporal-expression patterns in human brains and laminar-expression profiles in the developing neocortex, highlighting their important roles in brain development. Our results indicate some of Mic-Mac-risk genes are involved in ASD.

To improve the accuracy of image registration during feature based image stitching, especially in extreme illumination scenario, image enhancement is a crucial step as it improves the quality of the images. In this paper, a multi-scale image enhancement method is proposed as a preprocessing step of feature matching. The idea of the enhancement method is first to generate a high dynamic range version of the input images, then realize tone mapping of the HDR content by multi-scale method. SIFT descriptor and RANSAC algorithm are used for feature matching and image fusion to evaluate the proposed method. The results show that the accuracy of the feature matching can be increased by the proposed preprocessing method.

Most existing compressed sensing (CS) based radar imaging methods are based on the assumption that the targets are sparse enough, while in practice the targets are often spatially extended, which would degrade their inversion performances severely. In fact, the concentrations of the corresponding strong scatterers always form certain regions in high-resolution radar. Therefore, there still exist dependence and redundancy needed to exploit. In this paper, by utilizing the sparsity and continuity property of the targets, we propose a novel CS-based method for the radar imaging of two dimensional non-sparse scatterers, which is combining non-convex regularization and total variation constraint. Experimental results verify the effectiveness of the proposed method.

For building shadow extraction from high-resolution synthetic aperture radar (SAR) data, traditional image processing methods cannot fundamentally overcome the high sidelobe interference of SAR images. In this paper, a novel technique is proposed via the combination of amplitude reversal and total variation (TV). Instead of SAR image processing, it uses SAR raw echo signal for sparse reconstruction. The technique mainly considers two scattering properties of building shadow: the zero scattering intensity and the extended block sparsity. Amplitude reversal is proposed to restrain the former, while TV is exploited to restrain the latter. Then the problem becomes a combined cost function minimization, and the gradient projection method is used for solution. Simulation results and comparison with traditional methods show the effectiveness and performance improvement of the proposed method, with fewer echo samples used.

The micromotion of structures in a target may introduce a micro-Doppler (m-D) effect in the inverse synthetic aperture radar (ISAR) imaging, which contaminates the main body image of the classical range Doppler algorithm (RDA). This paper proposes a novel imaging method for micromotion targets, which assigns a hierarchical Bayesian prior to the element in the range profile, for the purpose of promoting the sparsity and maintaining the continuity pattern along the slow time dimension. To overcome the intractability of the posterior distribution, the Gibbs sampler is utilized to achieve the Bayesian inference. Subsequently, the range profile can be estimated from the expectation of the conditional posterior distribution, then a clear ISAR image can be obtained after cross compression. Experimental results validate the performance of the proposed method.

Traditional synthetic aperture radar (SAR) image processing for building detection and reconstruction faces the problems of sidelobe interference, geometric distortions and surrounding environment aliasing. In this paper, a sparse reconstruction and fusion technique is proposed for building footprint extraction from multi-aspect high-resolution SAR data. It can process different kinds of buildings including flat-roof buildings and gable-roof buildings. The building wall-ground double-bounce is mainly taken into account for its strong scattering properties and sparsity. First, double-bounce is extracted by compressive sensing (CS)-based sparse reconstruction and Hough transform. Then, multi-aspect data are projected and fused, and L-structures are extracted afterward. Finally, qualification by scores of confidence is proposed for the test of footprint candidates, and building footprint map is derived. Numerical experiment and comparison with traditional methods are carried out to show the effectiveness and performance improvement of the proposed method, with far fewer echo samples used.