Collectively, rare genetic disorders affect a substantial portion of the world’s population. In most cases, those affected face difficulties in receiving a clinical diagnosis and genetic characterization. The understanding of the molecular mechanisms of these diseases and the development of therapeutic treatments for patients are also challenging.
However, the application of recent advancements in genome sequencing/analysis technologies and computer-aided tools for predicting phenotype-genotype associations can bring significant benefits to this field. In this review, the most relevant online resources and computational tools for genome interpretation are highlighted, which are capable of enhancing the diagnosis, clinical management, and development of treatments for rare disorders. Read the full article here.
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