Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.

BACKGROUND: The absence of heterozygosity (AOH) is a kind of genomic change characterized by a long contiguous region of homozygous alleles in a chromosome, which may cause human genetic disorders. However, no method of low-pass whole genome sequencing (LP-WGS) has been reported for the detection of AOH in a low-pass setting of less than onefold. We developed a method, termed CNVseq-AOH, for predicting the absence of heterozygosity using LP-WGS with ultra-low sequencing data, which overcomes the sparse nature of typical LP-WGS data by combing population-based haplotype information, adjustable sliding windows, and recurrent neural network (RNN). We tested the feasibility of CNVseq-AOH for the detection of AOH in 409 cases (11 AOH regions for model training and 863 AOH regions for validation) from the 1000 Genomes Project (1KGP). AOH detection using CNVseq-AOH was also performed on 6 clinical cases with previously ascertained AOHs by whole exome sequencing (WES). RESULTS: Using SNP-based microarray results as reference (AOHs detected by CNVseq-AOH with at least a 50% overlap with the AOHs detected by chromosomal microarray analysis), 409 samples (863 AOH regions) in the 1KGP were used for concordant analysis. For 784 AOHs on autosomes and 79 AOHs on the X chromosome, CNVseq-AOH can predict AOHs with a concordant rate of 96.23% and 59.49% respectively based on the analysis of 0.1-fold LP-WGS data, which is far lower than the current standard in the field. Using 0.1-fold LP-WGS data, CNVseq-AOH revealed 5 additional AOHs (larger than 10 Mb in size) in the 409 samples. We further analyzed AOHs larger than 10 Mb, which is recommended for reporting the possibility of UPD. For the 291 AOH regions larger than 10 Mb, CNVseq-AOH can predict AOHs with a concordant rate of 99.66% with only 0.1-fold LP-WGS data. In the 6 clinical cases, CNVseq-AOH revealed all 15 known AOH regions. CONCLUSIONS: Here we reported a method for analyzing LP-WGS data to accurately identify regions of AOH, which possesses great potential to improve genetic testing of AOH.

Diversity and Activity of Soil N2O-Reducing Bacteria Shaped by Urbanization.

Nitrous oxide (N2O) is a potent greenhouse gas with various production pathways. N2O reductase (N2OR) is the primary N2O sink, but the distribution of its gene clades, typically nosZI and atypically nosZII, along urbanization gradients remains poorly understood. Here we sampled soils from forests, parks, and farmland across eight provinces in eastern China, using high-throughput sequencing to distinguish between two N2O-reducing bacteria clades. A deterministic process mainly determined assemblies of the nosZI communities. Homogeneous selection drove nosZI deterministic processes, and both homogeneous and heterogeneous selection influenced nosZII. This suggests nosZII is more sensitive to environmental changes than nosZI, with significant changes in community structure over time or space. Ecosystems with stronger anthropogenic disturbance, such as urban areas, provide diverse ecological niches for N2O-reducing bacteria (especially nosZII) to adapt to environmental fluctuations. Structural equation modeling (SEM) and correlation analyses revealed that pH significantly influences the community composition of both N2O-reducing bacteria clades. This study underscores urbanization's impact on N2O-reducing bacteria in urban soils, highlighting the importance of nosZII and survival strategies. It offers novel insights into the role of atypical denitrifiers among N2O-reducing bacteria, underscoring their potential ecological importance in mitigating N2O emissions from urban soils.

Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.

BACKGROUND: Low-pass genome sequencing (LP GS) is an alternative to chromosomal microarray analysis (CMA). However, validations of LP GS as a prenatal diagnostic test for amniotic fluid are rare. Moreover, sequencing depth of LP GS in prenatal diagnosis has not been evaluated. OBJECTIVE: The diagnostic performance of LP GS was compared with CMA using 375 amniotic fluid samples. Then, sequencing depth was evaluated by downsampling. RESULTS: CMA and LP GS had the same diagnostic yield (8.3%, 31/375). LP GS showed all copy number variations (CNVs) detected by CMA and six additional variant of uncertain significance CNVs (>100 kb) in samples with negative CMA results; CNV size influenced LP GS detection sensitivity. CNV detection was greatly influenced by sequencing depth when the CNV size was small or the CNV was located in the azoospermia factor c (AZFc) region of the Y chromosome. Large CNVs were less affected by sequencing depth and more stably detected. There were 155 CNVs detected by LP GS with at least a 50% reciprocal overlap with CNVs detected by CMA. With 25 M uniquely aligned high-quality reads (UAHRs), the detection sensitivity for the 155 CNVs was 99.14%. LP GS using samples with 25 M UAHRs showed the same performance as LP GS using total UAHRs. Considering the detection sensitivity, cost and interpretation workload, 25 M UAHRs are optimal for detecting most aneuploidies and microdeletions/microduplications. CONCLUSION: LP GS is a promising, robust alternative to CMA in clinical settings. A total of 25 M UAHRs are sufficient for detecting aneuploidies and most microdeletions/microduplications.

Psychometric properties of the Chinese version of the Gudjonsson compliance scale: scale validation and associations with mental health.

BACKGROUND: Trait compliance involves people reacting favorably to demands made by others across different situations. This may lead to susceptibility to external pressures, exploitation, and manipulation. Moreover, trait compliance was found to correlate with various mental health outcomes, such as depression and anxiety. The Gudjonsson Compliance Scale (GCS) is an efficient tool for assessing trait compliance in Western contexts. To date, no study has validated the psychometric properties of the GCS in Chinese populations. METHODS: Two college student samples from China were recruited. The first sample (N = 4,276) was used to conduct exploratory factor analysis. The second (N = 4,356) was used to perform a confirmatory factor analysis. The reliability, measurement invariance, and correlational tests were conducted on the two combined samples. RESULTS: The Chinese GCS showed a 3-factor structure, with two items deleted. Reliability was supported by moderate-to-good internal consistency of the three-factor scales and good internal consistency on the full scale. Strong measurement invariance across sex, ethnicity, and group recruitment was supported. Scores of the total scale and factor scales were found to significantly associated with several mental health problems. CONCLUSIONS: The Chinese version of the GCS appears to be a valid and reliable instrument for measuring trait compliance and could promote both the assessment and research on compliance in Chinese population.

Psychometric properties of the Chinese version of the 15-item Need for Closure Scale: Scale validation and associations with mental health.

BACKGROUND: Need for closure (NFC) has been found to be implicated in different forms of psychopathology. The 15-item Need for Closure Scale (NFCS) is an efficient and easy tool for assessing individuals' NFC in Western contexts. However, the psychometric properties of the 15-item NFCS have not yet been validated in Chinese populations. METHODS: Two different samples of university students from China were recruited in this study. The first sample (N = 5080, 49.9% females) was used to conduct exploratory factor analysis and reliability analysis. The second sample (N = 3968, 64.2% females) was used to perform confirmatory factor analysis, exploratory structural equation modeling (ESEM), and bifactor models, followed by tests of measurement invariance and criterion validity. RESULTS: The full scale showed good internal consistency. The bifactor-ESEM result with a general factor and four specific factors was chosen as our final model. Strong measurement invariance across sex and ethnicity groups was supported. Evidence was obtained for the criterion validity of NFCS scores with respect to depression, anxiety, and psychological distress. CONCLUSION: The Chinese NFCS appears to be a valid and reliable instrument for measuring the NFC, which could promote both the assessment and research of the NFC in Chinese populations.

Understanding cultural factors in mental health during the COVID-19 pandemic: when collectivism meets a tight culture.

The long-standing pathogen prevalence hypothesis suggests that collectivism can protect from epidemics and pandemics in terms of psychological well-being. However, studies exploring the protective mechanism induced when collectivism meets cultural tightness (the strength of social norms and tolerance for deviant behavior) are few. Therefore, this study aimed to investigate the protective effect of collectivism in detail considering loose and tight cultural contexts. The sample comprised 2001 Chinese participants (M age = 18.41 ± 2.388 years; 50.2% female). Moderated regression analyses indicated that more perceived risk of COVID-19 predicted severe mental health responses (i.e., depression and anxiety), collectivism moderated this positive relationship but individualism did not. Notably, the protective effect of collectivism is especially evident in tight cultures but ineffective in loose cultures. This study emphasized that the protective effects of collectivism on mental health during a pandemic should be considered within the framework of cultural tightness. This study's findings may advance knowledge about the relationship between cultural type and mental health during epidemics.

What protects us against the COVID-19 threat? Cultural tightness matters.

BACKGROUND: The only previous studies that formulated a theoretical model of epidemics for psychological response relative to cultural perspectives have focused on the role of individualism-collectivism and have omitted analysis of tightness-looseness. This study explored the role of cultural tightness in relation to psychological disorders during the outbreak of the COVID-19 pandemic. METHODS: We recruited 1827 Chinese adolescents (Mage = 18.16 ± 2.23 years, 53.3% female) to participate a cross-sectional survey. Participants completed a series of questionnaires, including the scales of cultural tightness, risk perception of COVID-19 pandemic, perceived protection efficacy, anxiety and depression. A latent moderated structural equations model was used to analyse the mediating and moderating effects of risk perception regarding COVID-19, cultural tightness and perceived protection efficacy on psychological disorders. RESULTS: The results showed that greater risk perception of COVID-19 predicted greater psychological disorders, however cultural tightness moderated this positive relationship. The increase in psychological disorders with risk perception regarding COVID-19 was less pronounced among people who lived in tighter cultural areas. In addition, this moderating effect of cultural tightness was further mediated by perceived protection efficacy; that is, tight culture protects against psychological disorders by enhancing perceived protection efficacy. CONCLUSION: This study enriched the theoretical framework of cultural tightness and indicated its importance in the field of mental health and health policies. It also emphasized the importance of tight culture as a protective factor against psychological disorders in case of COVID-19 outbreaks, providing valuable practical insight into psychological prevention for COVID-19 outbreaks.

When altruists cannot help: the influence of altruism on the mental health of university students during the COVID-19 pandemic.

BACKGROUND: The positive predictive effect of altruism on physical and psychological well-being has been extensively demonstrated in previous studies, but few studies have examined the effect of altruism on negative mental health outcomes when altruists cannot perform altruistic behaviours. This study explored the influence of altruism on negative affect and mental health (anxiety and depressive symptoms) during the COVID-19 pandemic while people self-isolated at home in China. METHOD: University students were recruited to participate in a cross-sectional online survey during the outbreak of COVID-19 in China. Self-reported perceived risk, altruism, negative affect, anxiety and depressive symptoms were measured using the Self-Report Altruism Scale (SRA scale), the Positive and Negative Affect Schedule (PANAS), the 7-item Generalized Anxiety Disorder Scale (GAD-7) and the 9-item Patient Health Questionnaire depression scale (PHQ-9). A structural equation model was used to analyse the mediating and moderating effects on mental health. RESULTS: The final sample comprised 1346 Chinese participants (Mage = 19.76 ± 2.23 years, 73% female). Overall, the higher the risk the participants perceived, the more negative affect they exhibited (ß = 0.16, p < .001), and thus, the more anxious and depressed they felt (ß = 0.134, p < .001); however, this relationship between risk perception and negative affect was moderated by altruism. In contrast to previous studies, the increase in negative affect associated with the increased perceived risk was pronounced among individuals with high altruism (t = 7.68, p < .001). CONCLUSIONS: Individuals with high altruism exhibited more negative affect than those with low altruism, which indirectly increased their anxiety and depressive symptoms. These findings enrich theories of altruism and provide valuable insight into the influence of altruism on mental health during the COVID-19 outbreak.

Challenges and recommendations for mental health providers during the COVID-19 pandemic: the experience of China's First University-based mental health team.

Coronavirus Disease is impacting the entire world. As the first country that has needed to confront this disease, China has responded with unprecedented and hugely successful public health initiatives. Almost simultaneous with the awareness of the potential for widespread loss of life, the first Chinese university recognizing the likely psychological impacts of COVID-19, assembled the first university-based professional team to offer pandemic-related mental health services to the Chinese public. This paper describes the work that we provided and the challenges encountered. The challenges are described in four contexts: the organizational/systemic level, the technical perspective, the therapeutic process, and the ethical aspects. We also provide recommendations on what we can do in the short term, and future improvements that can be made.

Metal-Organic Framework-Derived Au-Doped In2O3 Nanotubes for Monitoring CO at the ppb Level.

Achieving selective detection of ppb-level CO is important for air quality testing at industrial sites to ensure personal safety. Noble metal doping enhances charge transfer, which in turn reduces the detection limit of metal oxide gas sensors. In this work, metal-organic framework-derived Au-doped In2O3 nanotubes with high electrical conductivity are synthesized by pyrolysis of the Au-doped metal-organic framework (In-MIL-68) as a template. Gas-sensing experiments reveal that the detection limit of 0.2% Au-doped In2O3 nanotubes (0.2% Au, mass fraction) is as low as 750 ppb. Meanwhile, the sensing material shows a response value of 18.2 to 50 ppm of CO at 240 °C, which is about 2.8 times higher than that of pure In2O3. Meanwhile, the response and recovery times are short (37 s/86 s). The gas-sensing mechanism of CO is uncovered by in situ DRIFTS through the reaction intermediates. In addition, first-principles calculations suggest that Au doping of In2O3 significantly enhances its adsorption energy for CO and improves the electron transfer properties. This study reveals a novel synthesis pathway for Au-doped In2O3 nanotubular structures and their potential application in low concentration CO detection.

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Functional traits are indicators of the responses and adaptation of organisms to environmental changes and cascade to a series of ecosystem functions. The functional traits of soil animals are sensitive to environmental factors and may characterize and predict the changes of ecosystem functions. Multiple dimensions of biodiversity that combing species, phylogenetic, and functional diversity improves the understanding of distribution patterns, community assembly mechanisms and ecosystem functions of soil animals. In this review, we listed the categories of soil animal functional traits and their ecological significance, and summarized current researches on the responses of soil animal communities to environmental changes and the community assembly processes based on trait-based approaches. We proposed to strengthen the study on the impacts of eco-evolution processes of biotic interactions to soil animal functional traits, establish the database of soil animal functional traits, and apply trait-based approaches in the ecological restoration in the future, which would benefit soil biodiversity conservation and sustainability of soil ecosystems.

Perceived abusive supervision and graduate students' suicidal ideation: from the perspective of interpersonal psychological theory of suicide.

BACKGROUND: In recent years, the issue of suicide caused by the stress of a contradictory relationship between graduate students and academic supervisors has aroused heated discussion in society. Based on the interpersonal psychological theory of suicide, this study aims to examine the influence of the perceived abusive supervision on graduate students' suicidal ideation and the parallel mediating roles of thwarted belongingness and perceived burdensomeness. METHODS: We conducted a cross-sectional online survey measuring perceived abusive supervision, interpersonal psychological needs and suicidal ideation among 232 Chinese graduate students. A structural equation model was constructed to test the hypothesis. RESULTS: The results showed that abusive supervision directly exacerbated suicidal ideation (ß = 0.160, 95% CI = [0.038, 0.281], p = 0.009) and indirectly influenced suicidal ideation through thwarted belongingness (ß = 0.059, 95% CI = [0.008, 0.110], p = 0.019) and perceived burdensomeness (ß = 0.102, 95% CI = [0.013, 0.191], p = 0.018). The indirect effect accounted for 50.15% of the overall effect. CONCLUSIONS: These findings enrich our understanding of the influence of supervisor-student relationship by integrating the literatures on educational and organizational behaviour, and provide practical insights for psychosocial interventions from the perspective of the interpersonal psychological theory of suicide.

Longitudinal Impact of Perfectionism on Suicidal Ideation among Chinese College Students with Perceived Academic Failure: The Roles of Rumination and Depression.

OBJECTIVE: Suicide has become a nonnegligible cause of death among emerging adults, and academic performance is one of the most significant factors in Chinese college students' suicidal ideation. Based on this, we examined the risk and protective sides of perfectionism on suicidal ideation among college students with perceived academic failure experiences. METHOD: In the current study, a total of 674 Chinese college students (63.6% females, Mage = 19.96, SD = 1.31) with perceived academic failure in the past six months participated in a survey and completed self-report measures assessing perfectionism, rumination, depression, and suicidal ideation twice with a six-month interval. RESULTS: Negative perfectionism was a risk factor for suicidal ideation, while positive perfectionism had an opposite effect. In addition, intrusive rumination, deliberate rumination, and depression serially mediated the association between positive/negative perfectionism and suicidal ideation. CONCLUSION: The results indicated perfectionism has both positive and negative sides to suicidal ideation. Clinicians might be aware of the risk and protective components of perfectionism when intervening with suicidal ideation among college students with perceived academic failure experiences.

The current study examined the longitudinal association between negative/positive perfectionism and suicidal ideation among college students with perceived academic failure.Negative perfectionism generally acted as a risk factor for suicidal ideation, while positive perfectionism showed the opposite effects.he serial mediation among perfectionism, rumination, depression, and suicidal ideation was formed.

Perceived discrimination and suicidal ideation among impoverished and nonimpoverished college students: Different mechanisms via social support, depressive symptoms, and nonsuicidal self-injury.

INTRODUCTION: Being discriminated against is a potential interpersonal factor leading to suicidal ideation. Compared to nonimpoverished students, impoverished students have disadvantages in different aspects, leading to high risks of negative psychological states. However, few studies have contrasted the mechanism of discrimination in suicidal ideation between impoverished and nonimpoverished college students. The present study aimed to contrast the mediating effects of social support, depressive symptoms, and nonsuicidal self-injury (NSSI) between perceived discrimination and suicidal ideation among impoverished and nonimpoverished college students. METHOD: The convenience cluster sampling method was used. A total of 1897 Chinese college students (1084 female; Mage = 19.93, SD = 1.44) participated in the two-wave survey with a six-month interval. RESULTS: Perceived discrimination significantly predicted suicidal ideation. Social support, depressive symptoms, and NSSI acted as mediators. However, the structural weights were significantly different between impoverished and nonimpoverished students. Specifically, the role of social support was more significant among impoverished students, while the role of depressive symptoms was more significant among nonimpoverished students. CONCLUSIONS: Discrimination is a risk factor leading to suicidal ideation for college students. To intervene in suicidal ideation caused by discrimination, school and social workers should pay extra attention to reduce stress and increase social support for impoverished students.

Degree of urbanization and vegetation type shape soil biodiversity in city parks.

Urbanization negatively impacts aboveground biodiversity, such as bird and insect communities. City parks can reduce these negative impacts by providing important habitat. However, it remains poorly understood how the degree of urbanization and vegetation types within city parks (e.g., lawns, woodland) impact soil biodiversity. Here we investigated the impact of the degree of urbanization (urban vs. suburban) and vegetation type (lawn, shrub-lawn, tree-lawn and tree-shrub mixtures) on soil biodiversity in parkland systems. We used eDNA metabarcoding to characterize soil biodiversity of bacteria, fungi, protists, nematodes, meso- and macrofauna across park vegetation types in urban and suburban regions in Xiamen, China. We observed a strong effect of the degree of urbanization on the richness of different soil biota groups, with higher species richness of protists and meso/macrofauna in urban compared to suburban areas, while the richness of bacteria and fungi did not differ, and the difference of nematode richness depended on vegetation type. At the functional level, increased degree of urbanization associated with greater species richness of bacterivores, plant pathogens and animal parasites. These urbanization effects were at least partly modulated by higher soil phosphorous levels in urban compared to suburban sites. Also, the vegetation type impacted soil biodiversity, particularly fungal richness, with the richness of pathogenic and saprotrophic fungi increasing from lawn to tree-shrub mixtures. Tree-shrub mixtures also had the highest connectedness between biotas and lowest variation in the soil community structure. Overall, we show that soil biodiversity is strongly linked to the degree of urbanization, with overall richness increasing with urbanization, especially in bacterivores, plant pathogens and animal parasites. Targeted management of vegetation types in urban areas should provide a useful way to help mitigate the negative effect of urbanization on soil biodiversity.

Fast and Sensitive Detection of CO by Bi-MOF-Derived Porous In2O3/Fe2O3 Core-Shell Nanotubes.

In2O3 is an optimal material for sensitive detection of carbon monoxide (CO) gas due to its low resistivity and high catalytic activity. Yet, the gas response dynamics between the CO gas molecules and the surface of In2O3 is limited by its solid structure, resulting in a weak gas response value and sluggish electron transport. Herein, we report a strategy to synthesize porous In2O3/Fe2O3 core-shell nanotubes derived from In/Fe bimetallic organic frameworks. The fabricated porous In2O3/Fe2O3-4 core-shell nanotubes present outstanding gas sensitivities, including a response value 3.8 times (33.7 to 200 ppm CO at 260 °C) higher than that of monometallic-derived In2O3 (8.7), ultrashort response and recovery times (23/76 s) to 200 ppm CO, low detection limit (1 ppm), promising selectivity, and long-term stability. The enhanced sensing mechanisms are clarified by the combination of experiment and first-principles calculations, showing that the synergetic strategy of higher adsorption energy, increased electrical conductivity, higher electron transfer numbers, and larger specific surface area of porous core-shell structures promotes the surface activity and charge transfer efficiency. The present work paves a way to tune gas-sensing materials with special morphologies for the development of high-performance CO sensors.

Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs.

BACKGROUND: Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection of mosaic aneuploidies and copy number variants (CNVs) in prenatal diagnosis. Moreover, the influence of sequencing depth on mosaicism detection of LP GS has not been fully evaluated. METHODS: To evaluate the accuracy of LP GS in the detection of mosaic aneuploidies and mosaic CNVs, 27 samples with known aneuploidies and CNVs and 1 negative female sample were used to generate 6 simulated samples and 21 virtual samples, each sample contained 9 different mosaic levels. Mosaic levels were simulated by pooling reads or DNA from each positive sample and the negative sample according to a series of percentages (ranging from 3 to 40%). Then, the influence of sequencing depth on LP GS in the detection of mosaic aneuploidies and CNVs was evaluated by downsampling. RESULTS: To evaluate the accuracy of LP GS in the detection of mosaic aneuploidies and CNVs, a comparative analysis of mosaic levels was performed using 6 simulated samples and 21 virtual samples with 35 M million (M) uniquely aligned high-quality reads (UAHRs). For mosaic levels > 30%, the average difference (detected mosaic levels vs. theoretical mosaic levels) of 6 mosaic CNVs in simulated samples was 4.0%, and the average difference (detected mosaic levels vs. mosaic levels of Y chromosome) of 6 mosaic aneuploidies and 15 mosaic CNVs in virtual samples was 2.7%. Furthermore, LP GS had a higher detection rate and accuracy for the detection of mosaic aneuploidies and CNVs of larger sizes, especially mosaic aneuploidies. For depth evaluation, the results of LP GS in downsampling samples were compared with those of LP GS using 35 M UAHRs. The detection sensitivity of LP GS for 6 mosaic aneuploidies and 15 mosaic CNVs in virtual samples increased with UAHR. For mosaic levels > 30%, the total detection sensitivity reached a plateau at 30 M UAHRs. With 30 M UAHRs, the total detection sensitivity was 99.2% for virtual samples. CONCLUSIONS: We demonstrated the accuracy of LP GS in mosaicism detection using simulated data and virtual samples, respectively. Thirty M UAHRs (single-end 35 bp) were optimal for LP GS in the detection of mosaic aneuploidies and most mosaic CNVs larger than 1.48 Mb (Megabases) with mosaic levels > 30%. These results could provide a reference for laboratories that perform clinical LP GS in the detection of mosaic aneuploidies and CNVs.

Test development, optimization and validation of a WGS pipeline for genetic disorders.

BACKGROUND: With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking. METHODS: In this study, we introduced a whole WGS pipeline for genetic disorders, which included the entire process from obtaining a sample to clinical reporting. All samples that underwent WGS were constructed using polymerase chain reaction (PCR)-free library preparation protocols and sequenced on the MGISEQ-2000 platform. Bioinformatics pipelines were developed for the simultaneous detection of various types of variants, including single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs) and balanced rearrangements, mitochondrial (MT) variants, and other complex variants such as repeat expansion, pseudogenes and absence of heterozygosity (AOH). A semiautomatic pipeline was developed for the interpretation of potential SNVs and CNVs. Forty-five samples (including 14 positive commercially available samples, 23 laboratory-held positive cell lines and 8 clinical cases) with known variants were used to validate the whole pipeline. RESULTS: In this study, a whole WGS pipeline for genetic disorders was developed and optimized. Forty-five samples with known variants (6 with SNVs and Indels, 3 with MT variants, 5 with aneuploidies, 1 with triploidy, 23 with CNVs, 5 with balanced rearrangements, 2 with repeat expansions, 1 with AOHs, and 1 with exon 7-8 deletion of SMN1 gene) validated the effectiveness of our pipeline. CONCLUSIONS: This study has been piloted in test development, optimization, and validation of the WGS pipeline for genetic disorders. A set of best practices were recommended using our pipeline, along with a dataset of positive samples for benchmarking.

Role of rumination and hope on negative life events and suicidal ideation under the background of normalization of pandemic prevention and control: A moderated mediation model.

Introduction: The study aimed to investigate the impact and mechanism of negative life events on college students' suicidal ideation during the COVID-19 pandemic and the buffering effect of hope under the background of normalization of pandemic. Methods: A total of 5211 participants took part in this study. Self-reported negative life events, rumination, hope and suicide ideation were measured using a range of questions and scales. Our research demonstrated that the incidence of suicidal ideation among college freshmen in the past week was higher during the COVID-19 pandemic than that before the pandemic. In this study, conditional process model 15 was used to verify the hypothetical model of rumination as a potential mediator and hope as a moderator. Results: The hypothesized moderated mediation model was verified significant (ß = -0.047, 95% CI = [-0.061, -0.035]), and hope was found to moderate the direct effect of negative life events on suicidal ideation (ß = -0.039, t = -2.937, 95% CI = [-0.065, -0.013]) as well as the indirect effect of through the mediator rumination (ß = -0.134, t = -10.850, 95% CI = [-0.158, -0.110]). Discussion: We found that rumination partially mediated the effect of negative life events on suicidal ideation, and hope buffered the direct and indirect effect of negative life events on suicidal ideation. The implications of the findings for clinical interventions are discussed, including the importance of hope arousal as a protective factor and rumination as a cognitive mechanism for emotion regulation under the background of normalization of pandemic.

Overexposure to COVID-19 information amplifies emotional distress: a latent moderated mediation model.

An infodemic has accompanied the COVID-19 pandemic. This study explores whether overexposure to COVID-19-related information amplifies emotional distress. A cross-sectional online survey was conducted in China during the outbreak and after the peak of the pandemic (N = 1313). A latent moderated mediation model was built to analyze this relationship. COVID-19 information exposure was found to relate positively with emotional distress, and risk perception mediated the association between them. Additionally, psychological resilience moderated the mediating effects of risk perception. However, five factors of resilience differed in their moderating effects. This study offers theoretical and practical implications apropos clinical intervention and public health management.