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Whole-genome sequencing (WGS) allows direct interrogation of previously undetected uncommon or rare variants, which potentially contribute to the missing heritability of human diseases. However, cost of sequencing large numbers of samples limits its application in case control association studies. Here, theoretical and empirical design considerations for such sequencing studies, aimed at maximizing...
Copy number variants (CNVs) are important genetic factors for studying human diseases. While high-throughput whole genome re-sequencing provides multiple lines of evidence for detecting CNVs, computational algorithms need to be tailored for different type or size of CNVs under different experimental designs. To achieve optimal power and resolution of detecting CNVs at low-depth coverage, a Hidden...
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