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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: 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: 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., (© 2024. The Author(s).)