作者
Levon Demirdjian, Yungang Xu, Emad Bahrami-Samani, Yang Pan, Shayna Stein, Zhijie Xie, Eddie Park, Ying Nian Wu, Yi Xing
发表日期
2020/9/3
期刊
The American Journal of Human Genetics
卷号
107
期号
3
页码范围
461-472
出版商
Cell Press
简介
RNA sequencing (RNA-seq) is a powerful technology for studying human transcriptome variation. We introduce PAIRADISE (Paired Replicate Analysis of Allelic Differential Splicing Events), a method for detecting allele-specific alternative splicing (ASAS) from RNA-seq data. Unlike conventional approaches that detect ASAS events one sample at a time, PAIRADISE aggregates ASAS signals across multiple individuals in a population. By treating the two alleles of an individual as paired, and multiple individuals sharing a heterozygous SNP as replicates, we formulate ASAS detection using PAIRADISE as a statistical problem for identifying differential alternative splicing from RNA-seq data with paired replicates. PAIRADISE outperforms alternative statistical models in simulation studies. Applying PAIRADISE to replicate RNA-seq data of a single individual and to population-scale RNA-seq data across many …
引用总数
20212022202320244472
学术搜索中的文章
L Demirdjian, Y Xu, E Bahrami-Samani, Y Pan, S Stein… - The American Journal of Human Genetics, 2020