GeneticsbioRxiv
Rare variant phasing and haplotypic expression from RNA-sequencing with phASER
Stephane E Castel, Pejman Mohammadi, Wendy K Chung…·Tuuli Lappalainen
This paper introduces phASER, a method for phasing variants from RNA-seq data, improving accuracy for rare and de novo variants and enabling haplotypic expression analysis.
DOI 10.1038/ncomms12817