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An Optimum Projection and Noise Reduction Approach for Detecting Rare and Common Variants Associated with Complex Diseases
Author(s) -
Asuman Turkmen,
Shili Lin
Publication year - 2012
Publication title -
human heredity
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.423
H-Index - 62
eISSN - 1423-0062
pISSN - 0001-5652
DOI - 10.1159/000343797
Subject(s) - genome wide association study , missing heritability problem , genetic association , heritability , genetics , computational biology , biology , single nucleotide polymorphism , gene , genotype
Despite the thrilling advances in identifying gene variants that inuence common diseases, most of the heritable risk for many common diseases still remains unidentified. One of the possible reasons for this missing heritability is that the genome-wide association study (GWAS) approaches have been focusing on common rather than rare single nucleotide variants (SNVs). Consequently, there is currently a great deal of interest in developing methods that can interrogate rare variants for association with diseases.

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