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Performance evaluation of indel calling tools using real short-read data
(Biomed Central Ltd, 2015-08-19)
Background Insertion and deletion (indel), a common form of genetic variation, has been shown to cause or contribute to human genetic diseases and cancer. With the advance of next-generation sequencing technology, many ...
A Bayesian Analysis of Copy Number Variations in Array Comparative Genomic Hybridization Data
(OMICS International, 2015-09-25)
Array Comparative Genomic Hybridization (CGH) has been widely used for detecting genomic copy number variations (CNVs). The central goal of array CGH data analysis is to accurately detect homogeneous regions of log intensity ...