USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.

Brenner SE1, Kingsmore S, Mooney SD, Nussbaum R, Puck J.

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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.