Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Pediatric medicine: Diagnostic sequencing offers useful pharmacogenetic data, too Genome sequencing, in addition to helping diagnose disease, can inform medication decisions and improve drug safety for children. Ronald Cohn, Shinya Ito and colleagues at the Hospital for Sick Children in Toronto, Can...

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Autores principales:	Iris Cohn, Tara A. Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/1fff9bfcf8bc47f68f73369bebe62c5a
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spelling	oai:doaj.org-article:1fff9bfcf8bc47f68f73369bebe62c5a2021-12-02T16:08:59ZGenome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study10.1038/s41525-017-0021-82056-7944https://doaj.org/article/1fff9bfcf8bc47f68f73369bebe62c5a2017-05-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0021-8https://doaj.org/toc/2056-7944Pediatric medicine: Diagnostic sequencing offers useful pharmacogenetic data, too Genome sequencing, in addition to helping diagnose disease, can inform medication decisions and improve drug safety for children. Ronald Cohn, Shinya Ito and colleagues at the Hospital for Sick Children in Toronto, Canada, studied a cohort of 98 pediatric patients who had undergone whole genome sequencing to help diagnose their unexplained congenital malformations or neurodevelopmental disorders. The researchers looked for 67 DNA variants found in 19 genes with known effects on drug responses. They used targeted genotyping to assess the accuracy of the sequence data. Sequencing proved to be more than 99% accurate for all but one of the pharmacologically important genes, showing the power of diagnostic genomic sequencing to identify DNA variants in children that affect medication safety and effectiveness. However, the accuracy of the method may need to be validated for each relevant gene.Iris CohnTara A. PatonChristian R. MarshallRaveen BasranDimitri J. StavropoulosPeter N. RayNasim MonfaredRobin Z. HayeemsM. Stephen MeynSarah BowdinStephen W. SchererRonald D. CohnShinya ItoNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-8 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Iris Cohn Tara A. Paton Christian R. Marshall Raveen Basran Dimitri J. Stavropoulos Peter N. Ray Nasim Monfared Robin Z. Hayeems M. Stephen Meyn Sarah Bowdin Stephen W. Scherer Ronald D. Cohn Shinya Ito Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
description	Pediatric medicine: Diagnostic sequencing offers useful pharmacogenetic data, too Genome sequencing, in addition to helping diagnose disease, can inform medication decisions and improve drug safety for children. Ronald Cohn, Shinya Ito and colleagues at the Hospital for Sick Children in Toronto, Canada, studied a cohort of 98 pediatric patients who had undergone whole genome sequencing to help diagnose their unexplained congenital malformations or neurodevelopmental disorders. The researchers looked for 67 DNA variants found in 19 genes with known effects on drug responses. They used targeted genotyping to assess the accuracy of the sequence data. Sequencing proved to be more than 99% accurate for all but one of the pharmacologically important genes, showing the power of diagnostic genomic sequencing to identify DNA variants in children that affect medication safety and effectiveness. However, the accuracy of the method may need to be validated for each relevant gene.
format	article
author	Iris Cohn Tara A. Paton Christian R. Marshall Raveen Basran Dimitri J. Stavropoulos Peter N. Ray Nasim Monfared Robin Z. Hayeems M. Stephen Meyn Sarah Bowdin Stephen W. Scherer Ronald D. Cohn Shinya Ito
author_facet	Iris Cohn Tara A. Paton Christian R. Marshall Raveen Basran Dimitri J. Stavropoulos Peter N. Ray Nasim Monfared Robin Z. Hayeems M. Stephen Meyn Sarah Bowdin Stephen W. Scherer Ronald D. Cohn Shinya Ito
author_sort	Iris Cohn
title	Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
title_short	Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
title_full	Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
title_fullStr	Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
title_full_unstemmed	Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
title_sort	genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/1fff9bfcf8bc47f68f73369bebe62c5a
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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

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