{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T06:47:47Z","timestamp":1771483667625,"version":"3.50.1"},"update-to":[{"DOI":"10.1371\/journal.pcbi.1007613","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2020,2,20]],"date-time":"2020-02-20T00:00:00Z","timestamp":1582156800000}}],"reference-count":14,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2020,2,7]],"date-time":"2020-02-07T00:00:00Z","timestamp":1581033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.ploscompbiol.org"],"crossmark-restriction":false},"short-container-title":["PLoS Comput Biol"],"DOI":"10.1371\/journal.pcbi.1007613","type":"journal-article","created":{"date-parts":[[2020,2,7]],"date-time":"2020-02-07T13:30:42Z","timestamp":1581082242000},"page":"e1007613","update-policy":"https:\/\/doi.org\/10.1371\/journal.pcbi.corrections_policy","source":"Crossref","is-referenced-by-count":24,"title":["SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases"],"prefix":"10.1371","volume":"16","author":[{"given":"Paul","family":"Hager","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9713-6398","authenticated-orcid":true,"given":"Hans-Werner","family":"Mewes","sequence":"additional","affiliation":[]},{"given":"Meino","family":"Rohlfs","sequence":"additional","affiliation":[]},{"given":"Christoph","family":"Klein","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2511-4699","authenticated-orcid":true,"given":"Tim","family":"Jeske","sequence":"additional","affiliation":[]}],"member":"340","published-online":{"date-parts":[[2020,2,7]]},"reference":[{"issue":"D1","key":"pcbi.1007613.ref001","doi-asserted-by":"crossref","first-page":"D789","DOI":"10.1093\/nar\/gku1205","article-title":"OMIM.org: Online Mendelian Inheritance in Man (OMIM\u00ae), an online catalog of human genes and genetic disorders","volume":"43","author":"JS Amberger","year":"2015","journal-title":"Nucleic Acids Research"},{"issue":"5","key":"pcbi.1007613.ref002","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/nrg.2017.116","article-title":"Paediatric genomics: diagnosing rare disease in children","volume":"19","author":"CF Wright","year":"2018","journal-title":"Nature Reviews Genetics"},{"issue":"386","key":"pcbi.1007613.ref003","doi-asserted-by":"crossref","first-page":"eaal5209","DOI":"10.1126\/scitranslmed.aal5209","article-title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","volume":"9","author":"BB Cummings","year":"2017","journal-title":"Science Translational Medicine"},{"key":"pcbi.1007613.ref004","doi-asserted-by":"crossref","first-page":"15824","DOI":"10.1038\/ncomms15824","article-title":"Genetic diagnosis of Mendelian disorders via RNA sequencing","volume":"8","author":"LS Kremer","year":"2017","journal-title":"Nature Communications"},{"issue":"R2","key":"pcbi.1007613.ref005","doi-asserted-by":"crossref","first-page":"R119","DOI":"10.1093\/hmg\/ddq390","article-title":"Massively parallel sequencing and rare disease","volume":"19","author":"SB Ng","year":"2010","journal-title":"Human Molecular Genetics"},{"issue":"5","key":"pcbi.1007613.ref006","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genetics in Medicine"},{"issue":"10","key":"pcbi.1007613.ref007","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/nrg3555","article-title":"Rare-disease genetics in the era of next-generation sequencing: discovery to translation","volume":"14","author":"KM Boycott","year":"2013","journal-title":"Nature Reviews Genetics"},{"issue":"4","key":"pcbi.1007613.ref008","doi-asserted-by":"crossref","first-page":"e1007308","DOI":"10.1371\/journal.pgen.1007308","article-title":"Comparison of phasing strategies for whole human genomes","volume":"14","author":"Y Choi","year":"2018","journal-title":"PLOS Genetics"},{"key":"pcbi.1007613.ref009","doi-asserted-by":"crossref","first-page":"12817","DOI":"10.1038\/ncomms12817","article-title":"Rare variant phasing and haplotypic expression from RNA sequencing with phASER","volume":"7","author":"SE Castel","year":"2016","journal-title":"Nature communications"},{"key":"pcbi.1007613.ref010","doi-asserted-by":"crossref","unstructured":"Martin M, Patterson M, Garg S, Fischer SO, Pisanti N, Klau GW, et al. WhatsHap: fast and accurate read-based phasing. bioRxiv. 2016; p. 085050.","DOI":"10.1101\/085050"},{"key":"pcbi.1007613.ref011","doi-asserted-by":"crossref","unstructured":"Poplin R, Ruano-Rubio V, DePristo MA, Fennell TJ, Carneiro MO, der Auwera GAV, et al. Scaling accurate genetic variant discovery to tens of thousands of samples. bioRxiv. 2018; p. 201178.","DOI":"10.1101\/201178"},{"key":"pcbi.1007613.ref012","unstructured":"Kaplanis J, Akawi N, Gallone G, McRae JF, Prigmore E, Wright CF, et al. Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations. bioRxiv. 2018; p. 258723."},{"issue":"W1","key":"pcbi.1007613.ref013","doi-asserted-by":"crossref","first-page":"W537","DOI":"10.1093\/nar\/gky379","article-title":"The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update","volume":"46","author":"E Afgan","year":"2018","journal-title":"Nucleic Acids Research"},{"key":"pcbi.1007613.ref014","doi-asserted-by":"crossref","unstructured":"Hastreiter M, Jeske T, Hoser J, Kluge M, Ahomaa K, Friedl MS, et al. KNIME4NGS: a comprehensive toolbox for Next Generation Sequencing analysis. Bioinformatics. 2017; p. btx003.","DOI":"10.1093\/bioinformatics\/btx003"}],"updated-by":[{"DOI":"10.1371\/journal.pcbi.1007613","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2020,2,20]],"date-time":"2020-02-20T00:00:00Z","timestamp":1582156800000}}],"container-title":["PLOS Computational Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pcbi.1007613","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,20]],"date-time":"2020-02-20T13:34:21Z","timestamp":1582205661000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pcbi.1007613"}},"subtitle":[],"editor":[{"given":"Mihaela","family":"Pertea","sequence":"first","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2020,2,7]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,2,7]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pcbi.1007613","relation":{"new_version":[{"id-type":"doi","id":"10.1371\/journal.pcbi.1007613","asserted-by":"object"}]},"ISSN":["1553-7358"],"issn-type":[{"value":"1553-7358","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,7]]}}}