Design and implementation of a custom next generation sequencing panel for selected vitamin D associated genes.

ABSTRACT:

Background

Biologically active vitamin D has an important regulatory role within the genome. It binds the vitamin D receptor (VDR) in order to control the expression of a wide range of genes as well as interacting with the epigenome to modify chromatin and methylation status. Vitamin D deficiency is associated with several human diseases including end-stage renal disease.

Methods

This article describes the design and testing of a custom, targeted next generation sequencing (NGS) panel for selected vitamin D associated genes. Sequencing runs were used to determine the effectiveness of the panel for variant calling, to compare efficiency and data across different sequencers, and to perform representative, proof of principle association analyses. These analyses were underpowere

SUBMITTER: Benson KA 

PROVIDER: S-EPMC5534126 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature