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Current opportunities and challenges: genome‐wide association studies on pigmentation and skin cancer
Author(s) -
Meng Shasha,
Zhang Mingfeng,
Liang Liming,
Han Jiali
Publication year - 2012
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/j.1755-148x.2012.01023.x
Subject(s) - genome wide association study , genetic association , skin cancer , biology , phenotype , genetic architecture , computational biology , cancer , genetics , single nucleotide polymorphism , genotype , gene
Summary Genome‐wide association studies (GWAS) have become a widely used approach for genetic association studies of various human traits. A few GWAS have been conducted with the goal of identifying novel loci for pigmentation traits, melanoma, and non‐melanoma skin cancer. Nevertheless, the phenotype variation explained by the genetic markers identified so far is limited. In this review, we discuss the GWAS study design and its application in pigmentation and skin cancer research. Furthermore, we summarize recent developments in post‐GWAS activities such as meta‐analysis, pathway analysis, and risk prediction.