A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders - Parikh, Jignesh R.; Genetti, Casie A.; Aykanat, Asli; Brownstein, Catherine A.; Schmitz-Abe, Klaus; Danowski, Morgan; Quitadomo, Andrew; Madden, Jill A.; Yacoubian, Calum; Gain, Richard; Williams, Tessa; Meskell, Mary; et al. (HGG advances, 2021)
Keywords: electronic health records; Genetics; Human Phenotype Ontology; natural language processing; genetics; electronic health records; natural language processing; Human Phenotype Ontology