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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:NAR Genom Bioinform
Main Authors: Raimondi, Daniele, Simm, Jaak, Arany, Adam, Fariselli, Piero, Cleynen, Isabelle, Moreau, Yves
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2020
Teme:
Online dostop: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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