Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development

Heritability accounts for over 80% of adult human height, indicating that genetic variability is the main determinant of stature. The rapid technological development of Next-Generation Sequencing (NGS), particularly Whole Exome Sequencing (WES), has resulted in the characterization of several geneti...

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Bibliographic Details
Main Authors: Sabina Domené, Paula A. Scaglia, Mariana L. Gutiérrez, Horacio M. Domené
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Cells
Subjects:
bioinformatics
functional assays
growth and development
GH-IGF axis
short stature
next-generation sequencing
Online Access:https://www.mdpi.com/2073-4409/10/8/2063

Internet

https://www.mdpi.com/2073-4409/10/8/2063

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