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dc.contributor.authorCorpas, Manuel
dc.contributor.authorMegy, Karyn
dc.contributor.authorMistry, Vanisha
dc.contributor.authorMetastasio, Antonio
dc.contributor.authorLehmann, Edmund
dc.date2021
dc.date.accessioned2021-07-20T11:23:23Z
dc.date.available2021-07-20T11:23:23Z
dc.identifier.issn1664-8021
dc.identifier.urihttps://reunir.unir.net/handle/123456789/11634
dc.description.abstractAlthough 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.es_ES
dc.language.isoenges_ES
dc.publisherFrontiers in Geneticses_ES
dc.relation.ispartofseries;vol. 12
dc.relation.urihttps://www.frontiersin.org/articles/10.3389/fgene.2021.535123/fulles_ES
dc.rightsopenAccesses_ES
dc.subjectgenetic risk scorees_ES
dc.subjectinterpretationes_ES
dc.subjectnutrigenomicses_ES
dc.subjectpersonal genomicses_ES
dc.subjectpharmacogenomicses_ES
dc.subjectprecision medicinees_ES
dc.subjectwhole genome sequencinges_ES
dc.subjectScopuses_ES
dc.titleWhole Genome Interpretation for a Family of Fivees_ES
dc.typeArticulo Revista Indexadaes_ES
reunir.tag~ARIes_ES
dc.identifier.doihttps://doi.org/10.3389/fgene.2021.535123


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