{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T20:11:20Z","timestamp":1782504680647,"version":"3.54.5"},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T00:00:00Z","timestamp":1712275200000},"content-version":"vor","delay-in-days":7,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["190164416"],"award-info":[{"award-number":["190164416"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Motivation<\/jats:title>\n                  <jats:p>In the modern era of genomic research, the scientific community is witnessing an explosive growth in the volume of published findings. While this abundance of data offers invaluable insights, it also places a pressing responsibility on genetic professionals and researchers to stay informed about the latest findings and their clinical significance. Genomic variant interpretation is currently facing a challenge in identifying the most up-to-date and relevant scientific papers, while also extracting meaningful information to accelerate the process from clinical assessment to reporting. Computer-aided literature search and summarization can play a pivotal role in this context. By synthesizing complex genomic findings into concise, interpretable summaries, this approach facilitates the translation of extensive genomic datasets into clinically relevant insights.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>To bridge this gap, we present VarChat (varchat.engenome.com), an innovative tool based on generative AI, developed to find and summarize the fragmented scientific literature associated with genomic variants into brief yet informative texts. VarChat provides users with a concise description of specific genetic variants, detailing their impact on related proteins and possible effects on human health. In addition, VarChat offers direct links to related scientific trustable sources, and encourages deeper research.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and implementation<\/jats:title>\n                  <jats:p>varchat.engenome.com.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btae183","type":"journal-article","created":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T15:23:11Z","timestamp":1712244191000},"source":"Crossref","is-referenced-by-count":33,"title":["VarChat: the generative AI assistant for the interpretation of human genomic variations"],"prefix":"10.1093","volume":"40","author":[{"given":"Federica","family":"De Paoli","sequence":"first","affiliation":[{"name":"enGenome srl , via Ferrata, 5 , Pavia, 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Berardelli","sequence":"additional","affiliation":[{"name":"enGenome srl , via Ferrata, 5 , Pavia, 27100, Italy"},{"name":"Department of Electrical, Computer and Biomedical Engineering, University of Pavia , via Ferrata, 5 , Pavia, 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Limongelli","sequence":"additional","affiliation":[{"name":"enGenome srl , via Ferrata, 5 , Pavia, 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Rizzo","sequence":"additional","affiliation":[{"name":"enGenome srl , via Ferrata, 5 , Pavia, 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8465-632X","authenticated-orcid":false,"given":"Susanna","family":"Zucca","sequence":"additional","affiliation":[{"name":"enGenome srl , via Ferrata, 5 , Pavia, 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,4,5]]},"reference":[{"key":"2024042713045244200_btae183-B1","doi-asserted-by":"crossref","first-page":"W530","DOI":"10.1093\/nar\/gky355","article-title":"LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC","volume":"46","author":"Allot","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2024042713045244200_btae183-B2","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/s41588-023-01414-x","article-title":"Tracking genetic variants in the biomedical literature using LitVar 2.0","volume":"55","author":"Allot","year":"2023","journal-title":"Nat Genet"},{"key":"2024042713045244200_btae183-B3","author":"Borji","year":"2023"},{"key":"2024042713045244200_btae183-B4","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS recommendations for the description of sequence variants: 2016 update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Hum Mutat"},{"key":"2024042713045244200_btae183-B5","doi-asserted-by":"crossref","first-page":"D514","DOI":"10.1093\/nar\/gki033","article-title":"Online mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders","volume":"33","author":"Hamosh","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"2024042713045244200_btae183-B6","doi-asserted-by":"crossref","first-page":"e1005043","DOI":"10.1371\/journal.pcbi.1005043","article-title":"Genome landscapes of disease: strategies to predict the phenotypic consequences of human germline and somatic variation","volume":"12","author":"Karchin","year":"2016","journal-title":"PLoS Comput Biol"},{"key":"2024042713045244200_btae183-B7","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2024042713045244200_btae183-B8","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/978-1-4939-0709-0_2","volume-title":"Biomedical Literature Mining. 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