{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T20:36:38Z","timestamp":1790454998699,"version":"4.1.0"},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2018,12,8]],"date-time":"2018-12-08T00:00:00Z","timestamp":1544227200000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011775","name":"BC Children\u2019s Hospital Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100011775","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000038","name":"National Sciences and Engineering Research Council of Canada","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Discovery Grant Program","award":["RGPIN-2017-06824"],"award-info":[{"award-number":["RGPIN-2017-06824"]}]},{"name":"Genome Canada\/Genome British Columbia\/CIHR Large Scale Applied Research Grant ABC4DE","award":["174CDE"],"award-info":[{"award-number":["174CDE"]}]},{"name":"Michael Smith Foundation"},{"name":"Health Research Scholar Award"},{"DOI":"10.13039\/100011775","name":"BC Children\u2019s Hospital Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100011775","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The clinical diagnosis of genetic disorders is undergoing transformation, driven by whole exome sequencing and whole genome sequencing (WES\/WGS). However, such nucleotide-level resolution technologies create an interpretive challenge. Prior literature suggests that clinicians may employ characteristic cognitive processes during WES\/WGS investigations to identify disruptions in genes causal for the observed disease. Based on cognitive ergonomics, we designed and evaluated a gene prioritization workflow that supported these cognitive processes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We designed a novel workflow in which clinicians recalled known genetic diseases with similarity to patient phenotypes to inform WES\/WGS data interpretation. This prototype-based workflow was evaluated against the common computational approach based on physician-specified sets of individual patient phenotypes. The evaluation was conducted as a web-based user study, in which 18 clinicians analyzed 2 simulated patient scenarios using a randomly assigned workflow. Data analysis compared the 2 workflows with respect to accuracy and efficiency in diagnostic interpretation, efficacy in collecting detailed phenotypic information, and user satisfaction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Participants interpreted genetic diagnoses faster using prototype-based workflows. The 2 workflows did not differ in other evaluated aspects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The user study findings indicate that prototype-based approaches, which are designed to model experts\u2019 cognitive processes, can expedite gene prioritization and provide utility in synergy with common phenotype-driven variant\/gene prioritization approaches. However, further research of the extent of this effect across diverse genetic diseases is required.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The findings demonstrate potential for prototype-based phenotype description to accelerate computer-assisted variant\/gene prioritization through complementation of skills and knowledge of clinical experts via human\u2013computer interaction.<\/jats:p><\/jats:sec>","DOI":"10.1093\/jamia\/ocy153","type":"journal-article","created":{"date-parts":[[2018,10,26]],"date-time":"2018-10-26T19:43:54Z","timestamp":1540583034000},"page":"124-133","source":"Crossref","is-referenced-by-count":4,"title":["Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics"],"prefix":"10.1093","volume":"26","author":[{"given":"Jessica J Y","family":"Lee","sequence":"first","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Hospital Research 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