First, the pipeline identifies which areas of the genome the RNA sequencing data comes from, including the splice sites, and marks those points on the pangenome reference. Those marked points are then ...

First, the pipeline identifies which areas of the genome the RNA sequencing data comes from, including the splice sites, and marks those points on the pangenome reference.

RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

Researchers introduce a method for analyzing RNA sequencing data genome-wide using a 'pantranscriptome,' which combines a transcriptome and a pangenome, creating a richer reference that can ...