Article
gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels.
Genetic epidemiology - 1 May 2017
Larson Nicholas B, McDonnell Shannon, Cannon Albright Lisa, Teerlink Craig, Stanford Janet, Ostrander Elaine A, Isaacs William B, Xu Jianfeng, Cooney Kathleen A, Lange Ethan, Schleutker Johanna, Carpten John D, Powell Isaac, Bailey-Wilson Joan E, Cussenot Olivier, Cancel-Tassin Geraldine, Giles Graham G, MacInnis Robert J, Maier Christiane, Whittemore Alice S, Hsieh Chih-Lin, Wiklund Fredrik, Catalona William J, Foulkes William, Mandal Diptasri, Eeles Rosalind, Kote-Jarai Zsofia, Ackerman Michael J, Olson Timothy M, Klein Christopher J, Thibodeau Stephen N, Schaid Daniel J
Abstract excerpt
Next-generation sequencing technologies have afforded unprecedented characterization of low-frequency and rare genetic variation. Due to low power for single-variant testing, aggregative methods are commonly used to combine observed rare variation within a single gene. Causal variation may also aggregate across multiple genes within relevant biomolecular pathways. Kernel-machine regression and adaptive testing...
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