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Autor:
Alba Saez-Matia, Arantza Muguruza-Montero, Sara M-Alicante, Eider Núñez, Rafael Ramis, Óscar R. Ballesteros, Markel G Ibarluzea, Carmen Fons, Aritz Leonardo, Aitor Bergara, Alvaro Villarroel
Advances in DNA sequencing technologies have revolutionized rare disease diagnosis, resulting in an increasing volume of available genomic data. Despite this wealth of information and improved procedures to combine data from various sources, identify
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da8a1b96ac9adf55689041e86e169cd9
https://doi.org/10.1101/2022.10.20.513007
https://doi.org/10.1101/2022.10.20.513007