MOTIVATION: DNA copy number variations (CNVs) exert a profound impact on major genetic disorders in humans. Although multiple sequencing technologies have become the first line of molecular diagnosis for CNVs, existing tools are unable to resolve the pathogenicity of CNVs directly from raw sequencing data. RESULTS: We developed CNVSeeker, a one-stop and easy-to-use pipeline that provides comprehensive analysis from raw sequencing data to variant interpretation reports, and supports multiple types of sequencing data including short-read data such as whole genome sequencing data and whole exome sequencing data, and long-read sequencing data from Pacific Biosciences HiFi platform or Oxford Nanopore Technologies platform. Through extensive benchmarking, CNVSeeker demonstrated comparable enhancement over the state-of-the-art methods for CNV calling. Moreover, CNVSeeker enables significantly precise variant classification with an accuracy of ∼87%. By applying CNVSeeker to 1946 individuals with autism spectrum disorder (ASD), a total of 133 ASD-associated CNVs in 122 patients were identified, yielding a diagnostic yield of ∼6.3%. Additionally, we have also provided a user-friendly webserver for intuitive visualization of results. This study highlights the potential of CNVSeeker to benefit clinicians and geneticists with limited bioinformatic skill by aiding them interpret CNVs directly from various types of raw sequencing data for auxiliary disease diagnosis. AVAILABILITY AND IMPLEMENTATION: The web server is freely available at https://genemed.tech/cnvseeker and the open-source code can be found at https://github.com/lovelycatZ/CNVSeeker.

The view of embodied emotion believes that emotions are the emotions of the body. While emotion-specific patterns of self-reported bodily sensation have been previously reported, the physiological bodily representation across emotions remains to be addressed. The present study aimed to investigate the effectiveness of multi-site bodily electrodermal representations of emotions. A multi-channel electrodermal measurement device was designed to record electrodermal activities from nine body sites (neck, back, chest, bilateral abdomen, bilateral wrist, and bilateral ankle) from thirty-six college students (all male), while they were presented with a series of emotional pictures. Using the integral skin conductance response feature and a random forest classification method, the classification of high and low arousal levels achieved an average classification accuracy of 80.4±8.1%, and the classification of positive, neutral, and negative states reached an average classification accuracy of 76.4±10.2%. The classification models for arousal and valence were found to rely on distinct bodily representations. Meanwhile, the classification results of multi-site measurement were significantly better than single-site results. Our findings for the first time illustrate the bodily electrodermal representations of emotion and suggest the feasibility of affective computing using bodily electrodermal signals.