Article

Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

2022-12-13

Abstract excerpt

There are over 7,000 rare diseases, some affecting 3,500 or fewer patients in the US. Due to clinicians’ limited experience with such diseases and the heterogeneity of clinical presentations, approximately 70% of individuals seeking a diagnosis remain undiagnosed. Deep learning has demonstrated success in aiding the diagnosis of common diseases. However, existing approaches require labeled datasets with thousands...

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Literature Corpus work: f7c6b33a-96a2-50c8-98a9-4341b6840317
DOI: 10.1101/2022.12.07.22283238

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