Article

Statistical approaches for copy number variation detection and association with complex human phenotypes

2015-01-01

Abstract excerpt

Copy number variants (CNVs) play an important role in the disease pathogenesis, including epilepsy, diabetes and many others. CNVs, are also known to affect cellular phenotypes through several phenomenon such as gene dosage. Next generation technologies for sequencing (DNA and RNA) and metabolite profiling (metabolomics) has led to the systematic discovery and evaluation of various genomic variants and their relat...

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Literature Corpus work: 0777f44f-e40d-5a37-99bd-89e8376c4faa
DOI: 10.25560/45494

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