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

21 Feb 2020

Abstract excerpt

Abstract 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 technical problems need to be addressed. In particular, very few attempts at the in-silico diagnosis of...

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PMID: 33575557
DOI: 10.1093/nargab/lqaa011

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