Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Fernando López Bello"'
Publikováno v:
Informatics in Medicine Unlocked, Vol 15, Iss , Pp - (2019)
In this paper, we introduce a framework for processing genetics and genomics literature, based on ontologies and lexical resources from the biomedical domain. The main objective is to support the diagnosis process that is done by medical geneticists
Externí odkaz:
https://doaj.org/article/f51c23e3af2e4e31a8078c0801ab1ad3
Whole genome sequencing has become a wide-spread diagnostic tool for rare diseases patients. This broadens analyses to non-coding regions of the genome showing strong evidence of clinical significance for human Mendelian diseases. Notwithstanding its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ccce342010d387b2224cebfb2b78292
https://doi.org/10.1101/2022.02.25.22271514
https://doi.org/10.1101/2022.02.25.22271514
Publikováno v:
Informatics in Medicine Unlocked, Vol 15, Iss, Pp-(2019)
In this paper, we introduce a framework for processing genetics and genomics literature, based on ontologies and lexical resources from the biomedical domain. The main objective is to support the diagnosis process that is done by medical geneticists
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f5192a600805c805d8e40b980373021
http://www.sciencedirect.com/science/article/pii/S2352914819300309
http://www.sciencedirect.com/science/article/pii/S2352914819300309