Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

doi:10.1073/pnas.1909378117

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Article

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings of the National Academy of Sciences of the United States of America - 11 Feb 2020

Hou Ying-Chen Claire, Yu Hung-Chun, Martin Rick, Cirulli Elizabeth T, Schenker-Ahmed Natalie M, Hicks Michael, Cohen Isaac V, Jönsson Thomas J, Heister Robyn, Napier Lori, Swisher Christine Leon, Dominguez Saints, Tang Haibao, Li Weizhong, Perkins Bradley A, Barea Jaime, Rybak Christina, Smith Emily, Duchicela Keegan, Doney Michael, Brar Pamila, Hernandez Nathaniel, Kirkness Ewen F, Kahn Andrew M, Venter J Craig, Karow David S, Caskey C Thomas

Abstract excerpt

Genome sequencing has established clinical utility for rare disease diagnosis. While increasing numbers of individuals have undergone elective genome sequencing, a comprehensive study surveying genome-wide disease-associated genes in adults with deep phenotyping has not been reported. Here we report the results of a 3-y precision medicine study with a goal to integrate whole-genome sequencing with deep...

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PMID: 31980526
DOI: 10.1073/pnas.1909378117
PMCID: PMC7022190

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