What is a reference genome?

A digital nucleic acid database representing a gene set for an idealized organism.

Written by Rani Powers, PhD

A reference genome is constructed from a multitude of samples from various individuals in order to provide as much information as possible about a certain locus. For example, the human reference genome, GRCh38 (which Pluto uses currently), from the Genome Reference Consortium is derived from thirteen anonymous volunteers (click here for more information).

During RNA-seq data analysis, a reference genome is used to help align individual reads to a specific region which represents a gene. By annotating all the reads to a reference genome we can begin to identify changes in gene expression.