BackgroundAlthough most genes in mammalian genomes have multiple isoforms, an ongoing debate is whether these isoforms are all functional as well as the extent to which they increase the functional repertoire of the genome. To ground this debate in data, it would be helpful to have a corpus of experimentally-verified cases of genes which have functionally distinct splice isoforms (FDSIs).ResultsWe established a curation framework for evaluating experimental evidence of FDSIs, and analyzed over 700 human and mouse genes, strongly biased towards genes that are prominent in the alternative splicing literature. Despite this bias, we found experimental evidence meeting the classical definition for functionally distinct isoforms for ~ 5% of the curated genes. If we relax our criteria for inclusion to include weaker forms of evidence, the fraction of genes with evidence of FDSIs remains low (~ 13%). We provide evidence that this picture will not change substantially with further curation and conclude there is a large gap between the presumed impact of splicing on gene function and the experimental evidence. Furthermore, many functionally distinct isoforms were not traceable to a specific isoform in Ensembl, a database that forms the basis for much computational research.ConclusionsWe conclude that the claim that alternative splicing vastly increases the functional repertoire of the genome is an extrapolation from a limited number of empirically supported cases. We also conclude that more work is needed to integrate experimental evidence and genome annotation databases. Our work should help shape research around the role of splicing on gene function from presuming large general effects to acknowledging the need for stronger experimental evidence.Electronic supplementary materialThe online version of this article (10.1186/s12864-018-5013-2) contains supplementary material, which is available to authorized users.
Highlights d Systematic method to combine mouse liver network and human lipid GWAS for discovery d Identification of a conserved liver cholesterol module across mouse populations d Prioritization of genes replicated in mouse and associated with human lipid traits d Validation of Sestrin1 as a gene that regulates cholesterol biosynthesis
Background
Although the digitization of personal health information (PHI) has been shown to improve patient engagement in the primary care setting, patient perspectives on its impact in the emergency department (ED) are unknown.
Objective
The primary objective was to characterize the views of ED users in British Columbia, Canada, on the impacts of PHI digitization on ED care.
Methods
This was a mixed methods study consisting of an online survey followed by key informant interviews with a subset of survey respondents. ED users in British Columbia were asked about their ED experiences and attitudes toward PHI digitization in the ED.
Results
A total of 108 participants submitted survey responses between January and April 2020. Most survey respondents were interested in the use of electronic health records (79/105, 75%) and patient portals (91/107, 85%) in the ED and were amenable to sharing their ED PHI with ED staff (up to 90% in emergencies), family physicians (up to 91%), and family caregivers (up to 75%). In addition, 16 survey respondents provided key informant interviews in August 2020. Interviewees expected PHI digitization in the ED to enhance PHI access by health providers, patient-provider relationships, patient self-advocacy, and postdischarge care management, although some voiced concerns about patient privacy risk and limited access to digital technologies (eg, smart devices, internet connection). Many participants thought the COVID-19 pandemic could provide momentum for the digitization of health care.
Conclusions
Patients overwhelmingly support PHI digitization in the form of electronic health records and patient portals in the ED. The COVID-19 pandemic may represent a critical moment for the development and implementation of these tools.
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