Chapter 18, Problem 20PDQ

Summary Introduction

To review:

The following regarding the exome sequencing procedure used in diagnosing genetic conditions:

(a) The strengths and weaknesses of exome sequencing.

(b) Whether an analysis of the patient’s mitochondrial genome would be included while ordering exome sequencing of a patient or not.

Introduction:

Exome sequencing is a technique used to sequence exons present in the genome of an individual. Exon sequencing helps in revealing mutations that cause diseases by considering only exons as exons are the protein-coding segments in the genome.