Resequencing is often applied to explore genetic variation in individuals, families and populations, particularly with respect to human genetic disease. Requirements for sequencing depth in these studies are governed by the variant type of interest, the disease model and the size of the regions of interest. Resequencing can reveal single nucleotide polymorphisms, small insertions or deletions, structural variants, and copy number variation. Naturally, the design of a particular study depends on the biological hypothesis in question, and different sequencing strategies are used for population studies compared with those for studies of Mendelian disease or of somatic mutations in cancer.
Whole Genome Sequencing (WGS)
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