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Biostatistics 666: Rare Variant Burden Tests

Objective

Discussion of the challenges involved in the analysis of rare variation. Introduces basic burden tests, discusses the benefits of different variant weighting schemes (that might consider minor allele frequency, conservation or predicted function ). Provides practical

Lecture Notes

Recommended Reading

  • Li and Leal (2008) Am J Hum Genet 83:311-321
  • Zawistowski M, Gopalakrishnan S, Ding J, Li Y, Grimm S, Zöllner S (2010) Am J Hum Genet 87:604-617