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PiER: web-based facilities tailored for genetic target prioritisation harnessing human disease genetics, functional genomics and protein interactions.

ABSTRACT: Integrative prioritisation promotes translational use of disease genetic findings in target discovery. I report 'PiER' (http://www.genetictargets.com/PiER), web-based facilities that support ab initio and real-time genetic target prioritisation through integrative use of human disease genetics, functional genomics and protein interactions. By design, the PiER features two facilities: elementary and combinatory. The elementary facility is designed to perform specific tasks, including three online tools: eV2CG, utilising functional genomics to link disease-associated variants (particularly located at the non-coding genome) to core genes likely responsible for genetic associations in disease; eCG2PG, using knowledge of protein interactions to 'network' core genes and additional peripheral genes, producing a ranked list of core and peripheral genes; and eCrosstalk, exploiting the information of pathway-derived interactions to identify highly-ranked genes mediating crosstalk between molecular pathways. Each of elementary tasks giving results is sequentially piped to the next one. By chaining together elementary tasks, the combinatory facility automates genetics-led and network-based integrative prioritisation for genetic targets at the gene level (cTGene) and at the crosstalk level (cTCrosstalk). Together with a tutorial-like booklet describing instructions on how to use, the PiER facilities meet multi-tasking needs to accelerate computational translational medicine that leverages human disease genetics and genomics for early-stage target discovery and drug repurposing.

SUBMITTER: Fang H

PROVIDER: S-EPMC9252812 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND:When healthcare professionals' workloads are greater than available resources, care activities can be missed, omitted or delayed, potentially leading to adverse patient outcomes. Prioritisation, a precursor to missed care, involves decision-making about the order of care task completion based on perceived importance or urgency. Research on prioritisation and missed care has predominantly focused on acute care settings, which differ from residential aged care facilities in terms of funding, structure, staffing levels, skill mix, and approaches to care. The objective of this study was to investigate how care staff prioritise the care provided to residents living in residential aged care. METHODS:Thirty-one staff members from five Australian residential aged care facilities engaged in a Q sorting activity by ranking 34 cards representing different care activities on a pre-defined grid from 'Least important' (-?4) to 'Most important' (+?4). Concurrently, they participated in a think-aloud task, verbalising their decision-making processes. Following sorting, participants completed post-sorting interviews, a demographics questionnaire and semi-structured interviews. Q sort data were analysed using centroid factor analysis and varimax rotation in PQMethod. Factor arrays and data from the think-aloud task, field notes and interviews facilitated interpretation of the resulting factors. RESULTS:A four-factor solution, representing 22 participants and 62% of study variance, satisfied the selection criteria. The four distinct viewpoints represented by the solution were: 1. Prioritisation of clinical care, 2. Prioritisation of activities of daily living, 3. Humanistic approach to the prioritisation of care, and 4. Holistic approach to the prioritisation of care. Participants' prioritisation decisions were largely influenced by their occupations and perceived role responsibilities. Across the four viewpoints, residents having choices about their care ranked as a lower priority. CONCLUSIONS:This study has implications for missed care, as it demonstrates how care tasks deemed outside the scope of staff members' defined roles are often considered a lower priority. Our research also shows that, despite policy regulations mandating person-centred care and the respect of residents' preferences, staff members in residential aged care facilities tend to prioritise more task-oriented aspects of care over person-centredness.

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PiER: web-based facilities tailored for genetic target prioritisation harnessing human disease genetics, functional genomics and protein interactions.

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