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Abstract

January to March 2020 | Vol. 13 | Issue 1 | 11-12
Coffee with Genome: Emerging Paradigms in Personalised Medicine
Shagun Aggarwal
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad
Address for Correspondence Email: shagun.genetics@gmail.com
 
Abstract
French et al. performed trio Whole Genome Sequencing in a cohort of 195 intensively ill children in the neonatal and pediatric intensive care units. A genetic diagnosis was achieved in 21% children, and in 90% of the cases, phenotypic descriptor was a poor predictor of the gene identified. In 65% cases overall, and in 83% neonates, the diagnosis significantly altered clinical management in terms of modification of treatment and care pathways or palliative care decision making.
 
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