Semi-automated assembly of high-quality diploid human reference genomes

The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society. However, it still has many gaps and errors, and does not represent a biological genome as it is a blend of multiple individuals. Recently, a high-quality telomere-to-telomere reference, CHM13, was generated with the latest long-read technologies, but it was derived from a hydatidiform mole cell line with a nearly homozygous genome. To address these limitations, the Human Pangenome Reference Consortium formed with the goal of creating high-quality, cost-effective, diploid genome assemblies for a pangenome reference that represents human genetic diversity. Here, in our first scientific report, we determined which combination of current genome sequencing and assembly approaches yield the most complete and accurate diploid genome assembly with minimal manual curation. Approaches that used highly accurate long reads and parent-child data with graph-based haplotype phasing during assembly outperformed those that did not. Developing a combination of the top-performing methods, we generated our first high-quality diploid reference assembly, containing only approximately four gaps per chromosome on average, with most chromosomes within ±1% of the length of CHM13. Nearly 48% of protein-coding genes have non-synonymous amino acid changes between haplotypes, and centromeric regions showed the highest diversity. Our findings serve as a foundation for assembling near-complete diploid human genomes at scale for a pangenome reference to capture global genetic variation from single nucleotides to structural rearrangements

Preferred Health Resources and Use of Social Media to Obtain Health and Depression Information by Adolescent Mothers

Little is known about how adolescent mothers use social media and the Internet, especially to access health information.In this cross-sectional, descriptive study, adolescent mothers were recruited from an academic medical center after the birth of their child (n = 94) or from a state-funded, home visitation program during the first year after birth (n = 91). They completed the Pew Internet Survey: 37 questions related to use of social media and Internet, particularly in regard to obtaining health information.All adolescent mothers used a computer and almost all went online. Most accessed the Internet by cell phone (67.4%) and used social media. The health topics searched most frequently were pregnancy/birth control (85.8%), sexually transmitted diseases (n = 134, 72.6%) and HIV (66.3%). Response to survey questions differed between the two groups (adolescent mothers surveyed after birth from academic medical center and adolescent mothers surveyed in the first postpartum year in the community).Adolescent mothers spend significant time on the Internet including searching for health information. Cell phones are their preferred methods for accessing the Internet, and they use social media. Thus, social media and the Internet are potentially feasible and acceptable vehicles to deliver health interventions to adolescent mothers.? 201

Development of the combined assessment of residential environments (CARE) profiles

Aim: This paper reports the development and initial testing of the combined assessment of residential environments (CARE) profiles, which identify the frequency of positive events over a specified time based on the perceptions of residents, relatives and staff in care home settings. Background: Despite the well-known benefits of positive events for subjective well-being, little is known about the nature of positive events experienced by residents, relatives and staff in care homes. There is also a dearth of tools capable of systematically evaluating how frequently these events occur in this context. Methods: The CARE profiles were developed and tested between February 2004 and June 2005 with a combined sample of 372 residents, relatives and staff drawn from 11 care homes. An Event Frequency Approach was adopted to create three questionnaires (residents, relatives and staff), each containing 30 consensually valid positive events. The thematic content of these events was balanced for each questionnaire using the Senses Framework as a theoretical model. Once completed, the CARE profiles were tested in four care homes. Results: Test data from the CARE profiles were used to produce a bar chart showing median frequencies of positive events experienced by residents, relatives and staff during the timeframe in question (e.g. 1 month). These profiles were shown to be internally consistent, with alpha scores ranging from 0·70 to 0·89 for residents, 0·91 to 0·94 for relatives and 0·78 to 0·92 for staff. Conclusion: We envisage that feedback from the CARE profiles will both reinforce good care home practice and identify areas for change based on the experiences of all major stakeholders. However, further development of the profiles is needed if the experiences of cognitively impaired residents are to be included in the assessment process.</p