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Although next‐generation DNA sequencing technologies have made rare variant association studies feasible and affordable, the development of powerful statistical methods for rare variant association studies is still under way. Most of the existing methods for rare variant association studies compare the number of rare mutations in a group of rare variants (in a gene or a pathway) between cases and...
The advances in sequencing technology have made large‐scale sequencing studies for large cohorts feasible. Often, the primary goal for large‐scale studies is to identify genetic variants associated with a disease or other phenotypes. Even when deep sequencing is performed, there will be many sites where there is not enough data to call genotypes accurately. Ignoring the genotype classification uncertainty...
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