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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| 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 |