Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.

Background: The phenotypic outcomes of de novo variants (DNVs) in autism spectrum disorder (ASD) exhibit wide variability. To date, no study has comprehensively estimated DNV effects accounting for familial phenotypic background.

Methods: To evaluate DNV effects in a family-relative context, we defined within-family standardized deviations (WFSD) by subtracting phenotype scores of unaffected family members and standardizing the result.

Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.

Large-scale national biobank projects utilizing whole-genome sequencing have emerged as transformative resources for understanding human genetic variation and its relationship to health and disease. These initiatives, which include the UK Biobank, All of Us Research Program, Singapore's PRECISE, Biobank Japan, and the National Project of Bio-Big Data of Korea, are generating unprecedented volumes of high-resolution genomic data integrated with comprehensive phenotypic, environmental, and clinical information. This review examines the methodologies, contributions, and challenges of major WGS-based national genome projects worldwide.

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.

Background: Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly presenting at birth. Identifying the cause of CA is essential for accurate diagnosis and treatment. Using a target-gene approach, genetic variants could be found in certain CA patients.

Correction: Authentication of Allium ulleungense, A. microdictyon and A. ochotense based on super-barcoding of plastid genome and 45S nrDNA.

[This corrects the article DOI: 10.1371/journal.pone.

Supramolecular Association of a Block Copolymer via Strong Hydrogen Bonding to Form Self-Healable Ionogels.

The drive to enhance the operational durability and reliability of stretchable and wearable electronic and electrochemical devices has led to the exploration of self-healing materials that can recover from both physical and functional failures. In the present study, we fabricated a self-healable solid polymer electrolyte, referred to as an ionogel, using reversible hydrogen bonding between the ureidopyrimidone units of a block copolymer (BCP) network swollen in an ionic liquid (IL). The BCP consisted of poly(styrene--(methyl acrylate--ureidopyrimidone methacrylate)) [poly(S--(MA--UPyMA)], with the IL-phobic polystyrene forming micellar cores that were interconnected via intercorona hydrogen bonding between the ureidopyrimidone units.

CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.

Variants in cis-regulatory elements link the noncoding genome to human pathology; however, detailed analytic tools for understanding the association between cell-level brain pathology and noncoding variants are lacking. CWAS-Plus, adapted from a Python package for category-wide association testing (CWAS), enhances noncoding variant analysis by integrating both whole-genome sequencing (WGS) and user-provided functional data. With simplified parameter settings and an efficient multiple testing correction method, CWAS-Plus conducts the CWAS workflow 50 times faster than CWAS, making it more accessible and user-friendly for researchers.

Alleviation of Menopausal Symptoms by Yam (Dioscorea japonica Thunb.) and Gromwell (Lithospermum erythrorhizon Sieb. Et Zucc.) Extracts in Ovariectomized Mice.

Scope: The decline in estrogen during menopause contributes to a variety of menopausal symptoms, for which hormone replacement therapy (HRT) has been extensively applied. Regarding side effects and limited effectiveness of HRT for specific individuals, there is a growing interest in safe alternatives such as phytoestrogens which are structurally analogous to estrogens. This study aims to investigate the efficacy of yam and gromwell extracts, rich in bioactive compounds, and the synergistic effect of extracts on symptoms induced by estrogen deficiency in ovariectomized (OVX) mice.

Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Aim: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes.

Characteristics of consecutive versus non-consecutive frequent emergency medical services transport to a single emergency department.

Objective: This study was to examine characteristics concerning frequent users of emergency medical services (EMS) transport by comparing patients who used EMS transport frequently for one year and those who used EMS transport for more than two years consecutively.

Methods: A retrospective review for frequent use of EMS transport was conducted. The patients from the fire stations that transported more than 70% of all EMS transport to the study hospital emergency department (ED) were included.

Chemical Structure-Physicochemical Property Relationships of Copolymers Utilizable for Negative-Tone Photoimaging via Chemical Amplification.

We demonstrate an understanding of different physicochemical properties of copolymers induced by systematic changes in their structural parameters, i.e., the chemical structure of the comonomer unit, composition, molecular weight, and dispersity.

Depression and Subclinical Coronary Atherosclerosis in Adults Without Clinical Coronary Artery Disease.

Background: The relationship between depression and subclinical coronary atherosclerosis in asymptomatic individuals is not clear. We evaluated this relationship in a Korean population.

Methods And Results: We analyzed 3920 individuals (mean age 54.

Authentication of Allium ulleungense, A. microdictyon and A. ochotense based on super-barcoding of plastid genome and 45S nrDNA.

Allium ulleungense (AU) and A. microdictyon (AM) are valuable medicinal and edible vegetables, referred to as mountain garlic in Korea. The identification of AU, AM and a neighboring species A.

Differential Impact of Degree of Hypertension on Subclinical Coronary Atherosclerosis in Asymptomatic Subjects With and Without Diabetes Mellitus.

This study sought to evaluate the association between the degree of hypertension and subclinical coronary atherosclerosis in asymptomatic subjects with and without diabetes mellitus (DM). We retrospectively analyzed 7,352 asymptomatic subjects (mean age 52.8 ± 7.

Piezoelectric Nanogenerators Fabricated Using Spin Coating of Poly(vinylidene fluoride) and ZnO Composite.

In this context, the open-circuit voltage generated by either poly (vinylidene fluoride) or PVDF and ZnO composite sample before being enhanced to 4.2 V compared to 1.2 V for the samples of pure PVDF.

Deflection Test of Wire-Integrated Steel Deck Plates with Various End Details.

This experimental study was conducted to evaluate the deflection performance of wire-integrated steel deck plates with various end details subjected to cumulative gravity loads. In general, when deck plates are installed in the Republic of Korea, vertical bars are mounted at the ends of the wire-integrated deck plates. However, this process can extend the construction time, thus incurring additional costs.

Persistent impacts of smoking on resting-state EEG in male chronic smokers and past-smokers with 20 years of abstinence.

Smoking is a severe addictive health risk behavior and notorious for the high likelihood of relapse after attempted cessation. Such an addictive pattern in smoking has been associated with neurobiological changes in the brain. However, little is known whether the neural changes associated with chronic smoking persist after a long period of successful abstinence.

Serum phosphorus and subclinical coronary atherosclerosis in asymptomatic subjects without kidney dysfunction.

Background And Aims: There is limited data on the association between serum phosphorus concentration (SPC) and subclinical coronary atherosclerosis in low-risk asymptomatic subjects without kidney dysfunction.

Materials And Methods: We retrospectively analyzed 1,636 Korean individuals (mean age 52.6 ± 7.