Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis

• Main Authors: Xiaoyi Chen (Author), Carole Faviez (Author), Marc Vincent (Author), Luis Briseño-Roa (Author), Hassan Faour (Author), Jean-Philippe Annereau (Author), Stanislas Lyonnet (Author), Mohamad Zaidan (Author), Sophie Saunier (Author), Nicolas Garcelon (Author), Anita Burgun (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

A timely diagnosis is a key challenge for many rare diseases. As an expanding group of rare and severe monogenic disorders with a broad spectrum of clinical manifestations, ciliopathies, notably renal ciliopathies, suffer from important underdiagnosis issues. Our objective is to develop an approach...