Somatic Variants in the Human Lens Epithelium: A Preliminary Assessment.

ABSTRACT:

Purpose

We hypothesize that somatic mutations accumulate in cells of the human lens and may contribute to the development of cortical or posterior sub-capsular cataracts. Here, we used a Next-generation sequencing (NGS) strategy to screen for low-allelic frequency variants in DNA extracted from human lens epithelial samples.

Methods

Next-Generation sequencing of 151 cancer-related genes (WUCaMP2 panel) was performed on DNA extracted from post-mortem or surgical specimens obtained from 24 individuals. Usually, pairwise comparisons were made between two or more ocular samples from the same individual, allowing putative somatic variants detected in lens samples to be differentiated from germline variants.

Results

Use of a targeted hybridization approach enabled high sequ

SUBMITTER: Mesa R 

PROVIDER: S-EPMC4986767 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature