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Updated: Mar 27, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE
Steven E Brenner1, Stephen Kingsmore, Sean D Mooney
1Department of Plant and Microbial Biology, University of California, Berkeley, CA 94720, USA, brenner@compbio.berkeley.edu.
Abstract:
Rare genetic disorders affect millions of individuals worldwide. Many of these disorders can take decades to correctly diagnose. Because of this, genome sequencing of newborns raises a substantial opportunity to identify genetic disorders before they present symptoms, and to identify patient risks at the start of life. Many of these disorders can take decades to correctly diagnose. Because of this, genome sequencing of newborns raises a substantial opportunity to identify genetic disorders before they present symptoms, and to identify patient risks at the start of life. This workshop will report on efforts to screen newborns using genetic sequencing technologies, and attendant biomedical informatics and computational biology approaches.
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