TY - JOUR T1 - phASER: Long range phasing and haplotypic expression from RNA sequencing JF - bioRxiv DO - 10.1101/039529 SP - 039529 AU - Stephane E. Castel AU - Pejman Mohammadi AU - Wendy K. Chung AU - Yufeng Shen AU - Tuuli Lappalainen Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/02/12/039529.abstract N2 - Haplotype phasing of genetic variants is important for clinical interpretation of the genome, population genetic analysis, and functional genomic analysis of allelic activity. Here we present phASER, a fast and accurate approach for phasing variants that are overlapped by sequencing reads, including those from RNA-sequencing (RNA-seq), which often span multiple exons due to splicing. This provides 1) dramatically more accurate phasing of rare and de novo variants compared to population-based phasing; 2) phasing of variants in the same gene up to hundreds of kilobases away which cannot be obtained from DNA-sequencing reads; 3) high confidence measures of haplotypic expression, greatly improving power for allelic expression studies. ER -