Computational and statistical approaches to analyzing variants identified by exome sequencing - Genome Biology

New sequencing technology has enabled the identification of thousands of single nucleotide polymorphisms in the exome, and many computational and statistical approaches to identify disease-association signals have emerged. From quantitative trait locus mapping and linkage analysis to genome-wide association studies (GWASs), genetic markers have been used to locate causal genes underlying Mendelian

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Computational and statistical approaches to analyzing variants identified by exome sequencing