{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T11:56:57Z","timestamp":1771329417706,"version":"3.50.1"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2017,9,14]],"date-time":"2017-09-14T00:00:00Z","timestamp":1505347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["AI116794 and HG008679"],"award-info":[{"award-number":["AI116794 and HG008679"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004897","name":"Pennsylvania Department of Health","doi-asserted-by":"publisher","award":["#SAP 4100070267"],"award-info":[{"award-number":["#SAP 4100070267"]}],"id":[{"id":"10.13039\/100004897","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Motivation<\/jats:title>\n                  <jats:p>BioBin is an automated bioinformatics tool for the multi-level biological binning of sequence variants. Herein, we present a significant update to BioBin which expands the software to facilitate a comprehensive rare variant analysis and incorporates novel features and analysis enhancements.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In BioBin 2.3, we extend our software tool by implementing statistical association testing, updating the binning algorithm, as well as incorporating novel analysis features providing for a robust, highly customizable, and unified rare variant analysis tool.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>The BioBin software package is open source and freely available to users at http:\/\/www.ritchielab.com\/software\/biobin-download<\/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\/btx559","type":"journal-article","created":{"date-parts":[[2017,9,13]],"date-time":"2017-09-13T19:13:03Z","timestamp":1505329983000},"page":"527-529","source":"Crossref","is-referenced-by-count":11,"title":["Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4054-0071","authenticated-orcid":false,"given":"Anna O","family":"Basile","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Byrska-Bishop","sequence":"additional","affiliation":[{"name":"Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Wallace","sequence":"additional","affiliation":[{"name":"Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander T","family":"Frase","sequence":"additional","affiliation":[{"name":"Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marylyn D","family":"Ritchie","sequence":"additional","affiliation":[{"name":"Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2017,9,14]]},"reference":[{"key":"2023012712315327500_btx559-B1","first-page":"249","article-title":"Knowledge driven binning and PheWAS analysis in Marshfield Personalized Medicine Research Project using BioBin","volume":"21","author":"Basile","year":"2016","journal-title":"Pac. 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