Whole Genome Interpretation for a Family of Five.


Type
Article
Change log
Authors
Corpas, Manuel 
Mistry, Vanisha 
Metastasio, Antonio 
Lehmann, Edmund 
Abstract

Although best practices have emerged on how to analyse and interpret personal genomes, the utility of whole genome screening remains underdeveloped. A large amount of information can be gathered from various types of analyses via whole genome sequencing including pathogenicity screening, genetic risk scoring, fitness, nutrition, and pharmacogenomic analysis. We recognize different levels of confidence when assessing the validity of genetic markers and apply rigorous standards for evaluation of phenotype associations. We illustrate the application of this approach on a family of five. By applying analyses of whole genomes from different methodological perspectives, we are able to build a more comprehensive picture to assist decision making in preventative healthcare and well-being management. Our interpretation and reporting outputs provide input for a clinician to develop a healthcare plan for the individual, based on genetic and other healthcare data.

Description
Keywords
genetic risk score, interpretation, nutrigenomics, personal genomics, pharmacogenomics, precision medicine, whole genome sequencing
Journal Title
Front Genet
Conference Name
Journal ISSN
1664-8021
1664-8021
Volume Title
12
Publisher
Frontiers Media SA