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An interpretable low-complexity machine learning framework for robust exome-based in-silico diagnosis of Crohn’s disease patients

Whole exome sequencing (WES) data are allowing researchers to pinpoint the causes of many Mendelian disorders. In time, sequencing data will be crucial to solve the genome interpretation puzzle, which aims at uncovering the genotype-to-phenotype relationship, but for the moment many conceptual and t...

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Enregistré dans:
Détails bibliographiques
Publié dans:NAR Genom Bioinform
Auteurs principaux: Raimondi, Daniele, Simm, Jaak, Arany, Adam, Fariselli, Piero, Cleynen, Isabelle, Moreau, Yves
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7671306/
https://ncbi.nlm.nih.gov/pubmed/33575557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nargab/lqaa011
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