AI Article Synopsis
- - Whole genome sequencing can provide extensive information, including insights into disease risks, nutrition, fitness, and medication responses, but its full potential is not yet fully realized.
- - Confidence levels in assessing genetic markers vary, and strict evaluation standards are applied to ensure accurate phenotype associations.
- - By analyzing whole genomes from various angles in a family of five, a more complete understanding can be achieved, aiding clinicians in developing personalized healthcare plans based on genetics and other health data.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982663 | PMC |
| http://dx.doi.org/10.3389/fgene.2021.535123 | DOI Listing |
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