Rare disease diagnostics

December 20, 2021 12:08 pm Published by Leave your thoughts

Improving Diagnosis Yield With Reanalysis and AI for Rare Disease – A Single-center Experience and Lessons Learnt

An accurate molecular diagnosis can set the stage for improved patient care and provides an opportunity to study disease mechanisms, which may lead to development of tailored treatments. Data from our genetic research program demonstrate high diagnostic and novel disease-associated or causative gene discovery rates. This is likely related to the unique genetic architecture of the population in Northern Israel as well as to our strategy for case selection and the close collaboration between analysts, geneticists, and clinicians, all working in the same hospital.

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