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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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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 (β = 0.16, p < .001), and thus, the more anxious and depressed they felt (β = 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]