Figure 2
From: Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
Illustrative schematic of determining HPO terms best assayable by LRS. (A) SRS genomic coverage (gray bars) averaged across hundreds of genomes is calculated for each gene (blue lines). (B) Disease genes are mapped to HPO terms. (C) Terms are assembled and (D) the number of genes and the SRS-uncoverable size are assembled for each HPO term. These can then be used to prioritize patients for long read sequencing.
