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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Detalles Bibliográficos
Autores principales: Raimondi, Daniele, Simm, Jaak, Arany, Adam, Fariselli, Piero, Cleynen, Isabelle, Moreau, Yves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Methods Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7671306/
https://www.ncbi.nlm.nih.gov/pubmed/33575557
http://dx.doi.org/10.1093/nargab/lqaa011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7671306/
https://www.ncbi.nlm.nih.gov/pubmed/33575557
http://dx.doi.org/10.1093/nargab/lqaa011

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