Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.

ABSTRACT:

Background

Extraordinary progress has been made in our understanding of common variants in many diseases, including melanoma. Because the contribution of rare coding variants is not as well characterized, we performed an exome-wide, gene-based association study of familial cutaneous melanoma (CM) and ocular melanoma (OM).

Methods

Using 11 990 jointly processed individual DNA samples, whole-exome sequencing was performed, followed by large-scale joint variant calling using GATK (Genome Analysis ToolKit). PLINK/SEQ was used for statistical analysis of genetic variation. Four models were used to estimate the association among different types of variants. In vitro functional validation was performed using three human melanoma cell lines in 2D and 3D proliferation assays. In vivo

SUBMITTER: Artomov M 

PROVIDER: S-EPMC5939858 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature