Neonatal Genomics: Part 1—Basics and Definitions

Abstract

As genomic medicine is increasingly incorporated into clinical practice across all disciplines, an understanding of basic genetic concepts is important for the neonatologist. There are many different ways in which variations in the human genetic sequence, which comprises the genome, can lead to disease. Gene sequencing through the use of Sanger sequencing or next-generation sequencing technology can detect disease-causing variants and can be performed across the entire human genome in whole genome sequencing or across only the coding regions of the human genome in whole exome sequencing.