{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T08:11:52Z","timestamp":1767773512270,"version":"3.45.0"},"reference-count":19,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T00:00:00Z","timestamp":1671494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010661","name":"Horizon 2020 Framework Programme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012116","name":"EMBL-EBI","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012116","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["779257"],"award-info":[{"award-number":["779257"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010198","name":"Ministerio de Asuntos Econ\u00f3micos y Transformaci\u00f3n Digital, Gobierno de Espa\u00f1a","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010198","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PT13\/0001\/0044","PT17\/0009\/0019"],"award-info":[{"award-number":["PT13\/0001\/0044","PT17\/0009\/0019"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013060","name":"European Molecular Biology Laboratory","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cell Genomics"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.xgen.2022.100246","type":"journal-article","created":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T10:54:18Z","timestamp":1673434458000},"page":"100246","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases"],"prefix":"10.1016","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0174-2818","authenticated-orcid":false,"given":"Alberto","family":"Corv\u00f2","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Matalonga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dylan","family":"Spalding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Senf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Laurie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Pic\u00f3-Amador","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos","family":"Fernandez-Callejo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ida","family":"Paramonov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Foix","family":"Romero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Garcia-Rios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge Izquierdo","family":"Ciges","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anand","family":"Mohan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coline","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andres Felipe","family":"Silva Valencia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Csaba","family":"Halmagyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mallory Ann","family":"Freeberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary","family":"Saunders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo","family":"Gut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Keane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Piscia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2810-3445","authenticated-orcid":false,"given":"Sergi","family":"Beltran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.xgen.2022.100246_bib1","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.cell.2019.02.040","article-title":"A diagnosis for all rare genetic diseases: the Horizon and the Next frontiers","volume":"177","author":"Boycott","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.xgen.2022.100246_bib2","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/gim.2014.154","article-title":"Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions","volume":"17","author":"Farwell","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.xgen.2022.100246_bib3","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1038\/gim.2016.1","article-title":"A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders","volume":"18","author":"Stark","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.xgen.2022.100246_bib4","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/S0140-6736(14)61705-0","article-title":"Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data","volume":"385","author":"Wright","year":"2015","journal-title":"Lancet"},{"key":"10.1016\/j.xgen.2022.100246_bib5","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1038\/s41431-021-00859-0","article-title":"Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases","volume":"29","author":"Zurek","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2022.100246_bib6","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkab1059","article-title":"The European genome-phenome archive in 2021","volume":"50","author":"Freeberg","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.xgen.2022.100246_bib7","first-page":"717","article-title":"The RD-Connect Genome-Phenome Analysis Platform: accelerating diagnosis, research, and gene discovery for rare diseases","volume":"43","author":"Laurie","year":"2022","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.xgen.2022.100246_bib8","doi-asserted-by":"crossref","first-page":"160018","DOI":"10.1038\/sdata.2016.18","article-title":"The FAIR Guiding Principles for scientific data management and stewardship","volume":"3","author":"Wilkinson","year":"2016","journal-title":"Sci. Data"},{"key":"10.1016\/j.xgen.2022.100246_bib9","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1002\/humu.22858","article-title":"The Matchmaker Exchange: a platform for rare disease gene discovery","volume":"36","author":"Philippakis","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.xgen.2022.100246_bib10","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1002\/humu.23114","article-title":"From wet-lab to Variations: concordance and speed of bioinformatics pipelines for whole genome and whole exome sequencing","volume":"37","author":"Laurie","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.xgen.2022.100246_bib11","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/s41587-021-01158-1","article-title":"Curated variation benchmarks for challenging medically relevant autosomal genes","volume":"40","author":"Wagner","year":"2022","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.xgen.2022.100246_bib12","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/bioinformatics\/bty492","article-title":"htsget: a protocol for securely streaming genomic data","volume":"35","author":"Kelleher","year":"2019","journal-title":"Bioinformatics"},{"key":"10.1016\/j.xgen.2022.100246_bib13","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"Robinson","year":"2011","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.xgen.2022.100246_bib14","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1038\/s41431-021-00937-3","article-title":"A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis","volume":"29","author":"de Boer","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2022.100246_bib15","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1038\/s41431-021-00852-7","article-title":"Solving patients with rare diseases through programmatic reanalysis of genome-phenome data","volume":"29","author":"Matalonga","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2022.100246_bib16","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1038\/s41431-021-00901-1","article-title":"Solving unsolved rare neurological diseases-a Solve-RD viewpoint","volume":"29","author":"Sch\u00fcle","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2022.100246_bib17","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1038\/s41431-021-00853-6","article-title":"A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report","volume":"29","author":"Te Paske","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2022.100246_bib18","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1038\/s41431-021-00851-8","article-title":"Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)","volume":"29","author":"T\u00f6pf","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2022.100246_bib19","article-title":"igv.js: an embeddable JavaScript implementation of the Integrative Genomics Viewer (IGV)","author":"Robinson James","year":"2020","journal-title":"bioRxiv"}],"container-title":["Cell Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666979X22002099?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666979X22002099?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T07:26:43Z","timestamp":1763018803000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2666979X22002099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["S2666979X22002099"],"URL":"https:\/\/doi.org\/10.1016\/j.xgen.2022.100246","relation":{},"ISSN":["2666-979X"],"issn-type":[{"type":"print","value":"2666-979X"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases","name":"articletitle","label":"Article Title"},{"value":"Cell Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.xgen.2022.100246","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors.","name":"copyright","label":"Copyright"}],"article-number":"100246"}}