Signatures of TSPAN8 variants associated with human metabolic regulation and diseases.
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ABSTRACT:
SUBMITTER: De T
PROVIDER: S-EPMC8355918 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
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Signatures of TSPAN8 variants associated with human metabolic regulation and diseases.
De Tisham T Goncalves Angela A Speed Doug D Froguel Philippe P Gaffney Daniel J DJ Johnson Michael R MR Jarvelin Marjo-Riitta MR Coin Lachlan Jm LJ
iScience 20210722 8
Here, with the example of common copy number variation (CNV) in the <i>TSPAN8</i> gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human traits such as <sup>1</sup>H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report <i>TSPAN8</i> exon 11 (ENSE00003720745) as a pleiotropic locus associated with metabolomic regulation and show that its biolog ...[more]
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