https://scholars.lib.ntu.edu.tw/handle/123456789/627389
標題: | CLIN_SKAT: an R package to conduct association analysis using functionally relevant variants | 作者: | Chattopadhyay, Amrita Shih, Ching-Yu Hsu, Yu-Chen JYH-MING JIMMY JUANG ERIC YAO-YU CHUANG TZU-PIN LU |
關鍵字: | Association analysis; CLIN_SKAT; Clinically relevant variants; Dimension-reduction; R-package; Rare variants | 公開日期: | 23-十月-2022 | 出版社: | BMC | 卷: | 23 | 期: | 1 | 來源出版物: | BMC Bioinformatics | 摘要: | Availability of next generation sequencing data, allows low-frequency and rare variants to be studied through strategies other than the commonly used genome-wide association studies (GWAS). Rare variants are important keys towards explaining the heritability for complex diseases that remains to be explained by common variants due to their low effect sizes. However, analysis strategies struggle to keep up with the huge amount of data at disposal therefore creating a bottleneck. This study describes CLIN_SKAT, an R package, that provides users with an easily implemented analysis pipeline with the goal of (i) extracting clinically relevant variants (both rare and common), followed by (ii) gene-based association analysis by grouping the selected variants. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/627389 | ISSN: | 1471-2105 | DOI: | 10.1186/s12859-022-04987-2 |
顯示於: | 流行病學與預防醫學研究所 |
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