{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:51:25Z","timestamp":1760784685776,"version":"3.37.3"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T00:00:00Z","timestamp":1559606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["204562\/Z\/16\/Z"],"award-info":[{"award-number":["204562\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/S01473X\/1"],"award-info":[{"award-number":["MR\/S01473X\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Programa de Apoyo a Proyectos de Investigaci\u00f3n e Innovaci\u00f3n Tecnol\u00f3gica","award":["IA200318","IA206817"],"award-info":[{"award-number":["IA200318","IA206817"]}]},{"DOI":"10.13039\/501100000691","name":"Academy of Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000691","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Newton Advanced Fellowship","award":["CN-18-121","269449"],"award-info":[{"award-number":["CN-18-121","269449"]}]},{"name":"Programa de Doctorado en Ciencias Biom\u00e9dicas"},{"DOI":"10.13039\/501100005739","name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005739","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005739","name":"UNAM","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005739","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Motivation<\/jats:title>\n                  <jats:p>Identifying disease-causing variants from exome sequencing projects remains a challenging task that often requires bioinformatics expertise. Here we describe a user-friendly graphical application that allows medical professionals and bench biologists to prioritize and visualize genetic variants from human exome sequencing data.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We have implemented VCF\/Plotein, a graphical, fully interactive web application able to display exome sequencing data in VCF format. Gene and variant information is extracted from Ensembl. Cross-referencing with external databases and application-based gene and variant filtering have also been implemented. All data processing is done locally by the user\u2019s CPU to ensure the security of patient data.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>Freely available on the web at https:\/\/vcfplotein.liigh.unam.mx. Website implemented in JavaScript using the Vue.js framework, with all major browsers supported. Source code freely available for download at https:\/\/github.com\/raulossio\/VCF-plotein.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Supplementary information<\/jats:title>\n                  <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btz458","type":"journal-article","created":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T11:09:02Z","timestamp":1559214542000},"page":"4803-4805","source":"Crossref","is-referenced-by-count":6,"title":["VCF\/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects"],"prefix":"10.1093","volume":"35","author":[{"given":"Raul","family":"Ossio","sequence":"first","affiliation":[{"name":"Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Quer\u00e9taro 76230, Mexico"}]},{"given":"O Isaac","family":"Garcia-Salinas","sequence":"additional","affiliation":[{"name":"Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Quer\u00e9taro 76230, Mexico"}]},{"given":"Diego Said","family":"Anaya-Mancilla","sequence":"additional","affiliation":[{"name":"Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Quer\u00e9taro 76230, Mexico"}]},{"given":"Jair S","family":"Garcia-Sotelo","sequence":"additional","affiliation":[{"name":"Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Quer\u00e9taro 76230, Mexico"}]},{"given":"Luis A","family":"Aguilar","sequence":"additional","affiliation":[{"name":"Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Quer\u00e9taro 76230, Mexico"}]},{"given":"David J","family":"Adams","sequence":"additional","affiliation":[{"name":"Experimental Cancer Genetics, Wellcome Sanger Institute , Hinxton, Cambridge CB10 1SA, UK"}]},{"given":"Carla Daniela","family":"Robles-Espinoza","sequence":"additional","affiliation":[{"name":"Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Quer\u00e9taro 76230, Mexico"},{"name":"Experimental Cancer Genetics, Wellcome Sanger Institute , Hinxton, Cambridge CB10 1SA, UK"}]}],"member":"286","published-online":{"date-parts":[[2019,6,4]]},"reference":[{"key":"2023013108360140900_btz458-B1","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg0720s76","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","author":"Adzhubei","year":"2013","journal-title":"Curr. 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