Figure
Legends
Figure 1: Screenshot of the My Matches table in PhenomeCentral.PhenomeCentral users can use this table to keep track of the matches
found for all of their cases in one place. Here, they can perform
advanced filtering and sorting, compare genotypes and phenotypes between
matched cases, write individual notes, initiate contact with other
PhenomeCentral or MME users, and access the communication history
associated with a specific match.
Figure 2: Total number of cases deposited in PhenomeCentral.Since its launch in February 2014, and beginning with only a handful of
cases contributed by the Canadian Care for Rare Consortium
(http://care4rare.ca), PhenomeCentral has seen steady growth and has now
surpassed 12,000 patient profiles available for matching.
Figure 3: Overview of the HPO phenotypes documented in
PhenomeCentral cases (N = 12292 cases). a) Frequency of general
categories of HPO terms; abnormalities in the nervous system,
abnormalities in the head or neck, and abnormalities in the skeletal
system are most prevalent. b) Frequency of specific HPO terms;
global developmental delay, seizures, and short stature are most
prevalent.