Whole Genome Interpretation for a Family of Five

Corpas, M., Megy, K., Mistry, V., Metastasio, A. and Lehmann, E. 2021. Whole Genome Interpretation for a Family of Five. Frontiers in Genetics. 12 535123. https://doi.org/10.3389/fgene.2021.535123

TitleWhole Genome Interpretation for a Family of Five
TypeJournal article
AuthorsCorpas, M., Megy, K., Mistry, V., Metastasio, A. and Lehmann, E.
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.

Article number535123
JournalFrontiers in Genetics
Journal citation12
ISSN1664-8021
Year2021
PublisherFrontiers
Publisher's version
License
CC BY 4.0
File Access Level
Open (open metadata and files)
Digital Object Identifier (DOI)https://doi.org/10.3389/fgene.2021.535123
Publication dates
Published08 Mar 2021

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