Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

ABSTRACT:

Introduction

The human genome contains the instructions for the development and biological homeostasis of the human organism and the genetic transmission of traits. Genome variation in human populations is the basis of evolution; individual or personal genomes vary tremendously, making each of us truly unique.

Areas covered

Assaying this individual variation using genomic technologies has many applications in clinical medicine, from elucidating the biology of disease to designing strategies to ameliorate perturbations from homeostasis. Detecting pathogenic rare variation in a genome may provide a molecular diagnosis that can be informative for patient management and family healthcare.

Expert opinion

Despite the increasing clinical use of unbiased genomic testing, incl

SUBMITTER: Lupski JR 

PROVIDER: S-EPMC8208305 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature