Widespread allele-specific topological domains in the human genome are not confined to imprinted gene clusters.

BACKGROUND: There is widespread interest in the three-dimensional chromatin conformation of the genome and its impact on gene expression. However, these studies frequently do not consider parent-of-origin differences, such as genomic imprinting, which result in monoallelic expression. In addition, genome-wide allele-specific chromatin conformation associations have not been extensively explored. There are few accessible bioinformatic workflows for investigating allelic conformation differences and these require pre-phased haplotypes which are not widely available. RESULTS: We developed a bioinformatic pipeline, "HiCFlow," that performs haplotype assembly and visualization of parental chromatin architecture. We benchmarked the pipeline using prototype haplotype phased Hi-C data from GM12878 cells at three disease-associated imprinted gene clusters. Using Region Capture Hi-C and Hi-C data from human cell lines (1-7HB2, IMR-90, and H1-hESCs), we can robustly identify the known stable allele-specific interactions at the IGF2-H19 locus. Other imprinted loci (DLK1 and SNRPN) are more variable and there is no "canonical imprinted 3D structure," but we could detect allele-specific differences in A/B compartmentalization. Genome-wide, when topologically associating domains (TADs) are unbiasedly ranked according to their allele-specific contact frequencies, a set of allele-specific TADs could be defined. These occur in genomic regions of high sequence variation. In addition to imprinted genes, allele-specific TADs are also enriched for allele-specific expressed genes. We find loci that have not previously been identified as allele-specific expressed genes such as the bitter taste receptors (TAS2Rs). CONCLUSIONS: This study highlights the widespread differences in chromatin conformation between heterozygous loci and provides a new framework for understanding allele-specific expressed genes.

Use of Technology to Promote Health and Wellbeing of People Who Are Homeless: A Systematic Review.

BACKGROUND: People who are homeless experience poorer health outcomes and challenges accessing healthcare contribute to the experienced health inequality. There has been an expansion in using technology to promote health and wellbeing and technology has the potential to enable people who are socially excluded, including those who are homeless, to be able to access health services. However, little research has been undertaken to explore how technology is used to promote health and wellbeing for those who are homeless. This review aims to address the questions: 'what mobile health (mHealth) related technology is used by homeless populations' and 'what is the health impact of mobile technology for homeless populations'? METHODS: An integrative review methodology was employed. A systematic search of electronic databases was carried out between 4 January 2021 and 30 April 2021, searching for papers published between 2015 and 2021, which yielded 2113 hits, relevant papers were selected using specified inclusion and exclusion criteria reported using the Preferred Reporting Items for Systematic reviews and Meta-Analysis. The quality assessment of each paper included in the review was undertaken using the Mixed Methods Appraisal Tool. RESULTS: Seventeen papers were selected for review and thematic analysis identified four themes: technology ownership, barriers to use, connectivity and health benefits. CONCLUSION: It is evident that technology has the potential to support the health and wellbeing of individuals who are homeless; however, there are challenges regarding connectivity to the internet, as well as issues of trust in who has access to personal data and how they are used. Further research is needed to explore the use of health technology with people who are homeless to address these challenges.

How Do People Who Are Homeless Find Out about Local Health and Social Care Services: A Mixed Method Study.

BACKGROUND: There are significant numbers of people experiencing homelessness both in the UK and internationally. People who are homeless are much more likely to die prematurely and, therefore, need strong access to ongoing health and social care support if we hope to address the health disparity they face. OBJECTIVES: The aim of the research was to explore how people who are homeless identify and locate appropriate health and social care services. DESIGN: A mixed methods research study was applied on people who are currently homeless or had previously experienced homelessness. SETTINGS: The research study was based in an urban area in the southwest of England. The area was chosen as it was identified to be in the top 24 local authorities for the number of homeless individuals. PARTICIPANTS: A hundred individuals participated in the survey, of those 32% were living on the streets whilst 68% were living in temporary accommodation such as a charity home, shelter or a hotel paid for by the local authority. In addition, 16 participated in either a focus group or one-to-one interview Methods: The quantitative component consisted of a paper-based questionnaire whilst the qualitative aspect was focus groups/one-to-one interviews. The COREQ criteria were used in the report of the qualitative aspects of the study. RESULTS: Quantitative data identified poor health in 90% of the sample. Access to both healthcare and wider wellbeing services (housing and food) was problematic and support for this was largely through third sector charity organisations. Qualitative data identified numerous systemic, individual and cultural obstacles, leaving difficulty for people in terms of knowing who to contact and how to access services, largely relying on word of mouth of other people who are homeless. CONCLUSIONS: In order to address health inequities experienced by people who are homeless, there is a need to review how information regarding local health and wider wellbeing services is provided in local communities.