Figure 1.

A decade of rare disease (RD) gene discovery and diagnosis via the Care4Rare Canada Consortium

RD gene discoveries and diagnoses span three eras of the Care4Rare Canada program: FORGE, Care4Rare, and Care4Rare-SOLVE were a continuous series of large-scale pan-Canadian RD sequencing projects. For each era (colored boxes), the time frame, types of RDs studied, and number of families agreeing to participate is summarized. The outcomes, to date, from each era (gray box) display the diagnostic yield (in known and novel genes), compelling VUSs and GUSs, and novel genes published. Note that the outcomes (diagnosis or discovery) may have occurred at any point during the 10-year Care4Rare Canada program. A list of our candidate GUSs can be found in the Open Access Data webpage of the Genomics4RD website (https://www.genomics4rd.ca/openaccess). Families whose RD remains unsolved following clinical exome sequencing are eligible to participate in our research protocol for unsolved RDs. VUS, variant of uncertain significance; GUS, gene of uncertain significance.