A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests | Zendy

Julian Hecker | Zendy; F. William Townes | Zendy; Priyadarshini Kachroo | Zendy; Cecelia Laurie | Zendy; Jessica LaskySu | Zendy; John Ziniti | Zendy; Michael H. Cho | Zendy; Scott T. Weiss | Zendy; Nan M. Laird | Zendy; Christoph Lange | Zendy

Open Access

A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests

Author(s) -

Julian Hecker,

F. William Townes,

Priyadarshini Kachroo,

Cecelia Laurie,

Jessica LaskySu,

John Ziniti,

Michael H. Cho,

Scott T. Weiss,

Nan M. Laird,

Christoph Lange

Publication year - 2020

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btaa1055

Subject(s) - test statistic , null distribution , computer science , statistics , statistical hypothesis testing , statistic , population stratification , score test , mathematics , biology , genetics , genotype , single nucleotide polymorphism , gene

Analysis of rare variants in family-based studies remains a challenge. Transmission-based approaches provide robustness against population stratification, but the evaluation of the significance of test statistics based on asymptotic theory can be imprecise. Also, power will depend heavily on the choice of the test statistic and on the underlying genetic architecture of the locus, which will be generally unknown.

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