ulfasQTL: an ultra-fast method of composite splicing QTL analysis
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- 作者：Qian Yang ; Yue Hu ; Jun Li ; Xuegong Zhang
- 关键词：Alternative splicing ; Genetic variants ; sQTL ; Genome ; wide ; Ultra ; fast method
- 刊名：BMC Genomics
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：18
- 期：1-supp
- 全文大小：1299KB
- 刊物主题：Life Sciences, general; Microarrays; Proteomics; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics;
- 出版者：BioMed Central
- ISSN：1471-2164
- 卷排序：18
文摘
BackgroundAlternative splicing plays important roles in many regulatory processes and diseases in human. Many genetic variants contribute to phenotypic differences in gene expression and splicing that determine variations in human traits. Detecting genetic variants that affect splicing phenotypes is essential for understanding the functional impact of genetic variations on alternative splicing. For many situations, the key phenotype is the relative splicing ratios of alternative isoforms rather than the expression values of individual isoforms. Splicing quantitative trait loci (sQTL) analysis methods have been proposed for detecting associations of genetic variants with the vectors of isoform splicing ratios of genes. We call this task as composite sQTL analysis. Existing methods are computationally intensive and cannot scale up for whole genome analysis.