Abstract
DNA diagnostic tools have revolutionized modern medicine. Rapid and cost-effective technologies have changed the way genetic diseases are being recognized and diagnosed. Doctors are adopting these tests increasingly as a genotype – first approach to comprehensively screen patients instead of multiple costly, invasive tests or tests requiring anesthesia in children such as MRI, etc. In cases without a diagnosis such as fever of unknown origin or chronic illness without a diagnosis, doctors are increasingly adopting these technologies to find answers. The challenges lay in betterment of software technologies for genotype and phenotype correlation so as to minimize the uncertainty in diagnosis and availability of functional analysis of novel variants for betterment of understanding of molecular pathophysiology of these diseases.
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Tamhankar, P.M., Tamhankar, V.P., Vasudevan, L. (2022). Diagnosis of Genetic Disorders by DNA Analysis. In: Dash, H.R., Shrivastava, P., Lorente, J.A. (eds) Handbook of DNA Profiling. Springer, Singapore. https://doi.org/10.1007/978-981-16-4318-7_30
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