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SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

Several biobanks, including UK Biobank (UKBB), are generating large-scale sequencing data. An existing method, SAIGE-GENE, performs well when testing variants with minor allele frequency (MAF) ≤ 1%, but inflation is observed in variance component set-based tests when restricting to variants with MAF...

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Detalles Bibliográficos
Autores principales: Zhou, Wei, Bi, Wenjian, Zhao, Zhangchen, Dey, Kushal K., Jagadeesh, Karthik A., Karczewski, Konrad J., Daly, Mark J., Neale, Benjamin M., Lee, Seunggeun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9534766/
https://www.ncbi.nlm.nih.gov/pubmed/36138231
http://dx.doi.org/10.1038/s41588-022-01178-w