Recent advances and challenges of rare variant association analysis in the biobank sequencing era

HIGHLIGHTS

• who: . and collaborators from the The Pennsylvania State University (PSU), United States have published the Article: Recent advances and challenges of rare variant association analysis in the biobank sequencing era, in the Journal: (JOURNAL)
• what: The authors provide a more detailed review of each topic in the following sections.
• how: The SPA approach is implemented in SAIGE (Zhou et_al 2018) and in REGENIE (Mbatchou et_al 2021) for testing singlevariant association across the genome in the case of extreme imbalance.

SUMMARY

Alternative approaches to standard region-based testing include scan . . .

 



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