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  • Machine Learning to Decode ...
    Telenti, Amalio

    Clinical chemistry (Baltimore, Md.), 01/2020, Letnik: 66, Številka: 1
    Journal Article

    ...this huge volume of laboratory results and associated metadata has reached the sweet spot for machine learning techniques. A quick inspection of PubMed reveals the growing number ofpublications that include the concepts of genomics and machine learning or, more recently, deep learning (Fig. 1). ...it is useful to remind ourselves of the basic concepts: ...this example shows how machine learning could be weaved into the analytics ofa laboratory for the broader capture of clinical, laboratory, genomics, and also operational data (6). ...prioritizing variants on the basis of the likelihood that they are pathogenic is the current challenge for applying machine learning.