Whole exome sequencing (WES) is widely adopted in clinical and research settings; however, one of the practical concerns is the potential false negatives due to incomplete breadth and depth of coverage for several exons in clinically implicated genes. In some cases, a targeted gene panel testing may be a dependable option to ascertain true negatives for genomic variants in known disease-associated genes. We developed a web-based tool to quickly gauge whether all genes of interest would be reliably covered by WES or whether targeted gene panel testing should be considered instead to minimize false negatives in candidate genes.

WEScover is a novel web application that provides an intuitive user interface for discovering breadth and depth of coverage across population-scale WES datasets, searching either by phenotype, by targeted gene panel(s) or by gene(s). Moreover, the application shows metrics from the Genome Aggregation Database to provide gene-centric view on breadth of coverage.

WEScover allows users to efficiently query genes and phenotypes for the coverage of associated exons by WES and recommends use of panel tests for the genes with potential incomplete coverage by WES.

WEScover allows users to efficiently query genes and phenotypes for the coverage of associated exons by WES and recommends use of panel tests for the genes with potential incomplete coverage by WES.

Improvements in sequencing technology continue to drive sequencing cost towards $100 per genome. However, mapping sequenced data to a reference genome remains a computationally-intensive task due to the dependence on edit distance for dealing with INDELs and mismatches introduced by sequencing. All modern aligners use seed-filter-extend methodology and rely on filtration heuristics to reduce the overhead of edit distance computation. However, filtering has inherent performance-accuracy trade-offs that limits its effectiveness.

Motivated by algorithmic advances in randomized low-distortion embedding, we introduce SEE, a new methodology for developing sequence mappers and aligners. While SFE focuses on eliminating sub-optimal candidates, SEE focuses instead on identifying optimal candidates. To do so, SEE transforms the read and reference strings from edit distance regime to the Hamming regime by embedding them using a randomized algorithm, and uses Hamming distance over the embedded set to identify optimalor other applications like graph alignment, multiple sequence alignment, and sequence assembly.Informal care is a major source of long-term services and supports (LTSS) for older adults in the U.S. However, the increasing gap between available family caregivers and those needing LTSS in coming years warrants better understanding of the balance between informal and formal home or community-based LTSS to meet the growing demand. The current study aimed to 1) identify patterns of informal and formal LTSS use among community-dwelling individuals, and 2) examine if the supply of formal LTSS predicts the use of informal care. These aims were investigated by linking the market supply of formal LTSS at the state-level to the Health and Retirement Survey data (N = 7,781). Results provide important empirical evidence that patterns of informal and formal LTSS use among older adults are heterogeneous and market supply of formal home and community-based services (HCBS) significantly predicts the use of informal care. Most older adults rely on informal care in combination with some formal supports, suggesting that the two systems work in tandem to meet the growing needs of LTSS. This offers important implications for states allocating resources to meet the LTSS needs of older adults and individuals with disabilities since states play key roles in U.S. long-term care policies.As COVID-19 puts older people in long-term institutional care at the highest risk of infection and death, the need for home-based care has increased. Germany relies largely on migrant caregivers from Poland. Yet the pandemic-related mobility restrictions reveal the deficiencies of this transnational elder care system. This article asks if this system is resilient. In order to answer this question, the research team conducted interviews with 10 experts and randomly selected representatives of brokering and sending agencies in Germany and Poland. We interviewed 13 agencies in Germany and 15 in Poland on the agencies’ characteristics, recruitment strategies, challenges of the pandemic, and impact of legal regulations in the sector. The analysis shows that the system could mobilize adaptive capacities and continue to deliver services, but its absorptive capacity is limited. To enhance resilience, policies working toward formalization and legalization of care services across national borders are required.This study aimed to determine the effects of self-efficacy, social support, and health literacy on prenatal care and birth weight among pregnant women. This descriptive-analytical study was conducted on 860 primiparous pregnant women who referred to health care centers for prenatal care in Iranshahr, Iran. Participants were selected through a two-stage cluster sampling. find more The data were collected from November 2016 to the end of January 2017 using a valid and reliable questionnaire. Data were analyzed using descriptive tests, chi-square and hierarchical regression analyses in SPSS 20. The findings indicated that health literacy, self-efficacy, income, social support, and education level explained for 7.5%, 4.6%, 2.6%, 1%, and 0.6% of the variances in caring prenatal care, respectively. Moreover, income, prenatal care, insurance, health literacy, and social support were the most effective on birth weight outcome (OR = 2.21, OR = 2.12, OR = 2, OR = 0.66, OR = 0.17). The results of the current study indicated that a combination of health literacy, self-efficacy, and social support are necessary to improve prenatal care and birth weight for Iranian low-income pregnant women.Pension inequality resulting from fragmented arrangements among different population groups – such as public sector employees, enterprise workers, rural residents, and urban informal workers – has become an essential obstacle to China’s socioeconomic development. This commentary analyzes the impacts of the 2015 pension reform on the inequality within China’s pension system. We claim that the unification of pension rules should be considered the greatest achievement in mitigating pension inequality. However, the integrated pension rules do not necessarily reduce gaps in pension opportunity and benefits among groups because of differentiation in their labor incomes as well as pension attributes. In addition, although the pension structures were flattened at the basic level, structural disparities exist at the supplementary level, strengthening unequal pension benefit outcomes. We argue that the 2015 pension reform enables public sector employees’ privileged status to continue while enterprise employees and rural residents and urban informal workers remain at the pension system’s margins.