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. Author manuscript; available in PMC: 2023 Jun 1.
Published in final edited form as: Hum Mutat. 2022 Mar 21;43(6):698–707. doi: 10.1002/humu.24366

Figure 2:

Figure 2:

The Project Page in seqr, showing the Rare Genomes Project as an example. The top portion of the page contains (1) quick links to the main page and summary data; (2) project description details; (3) customizable analysis groups and gene lists; (4) project overview with high-level details of the number of families and Matchmaker submissions (5) variants tagged in the project; (6) users with access to the project; (7) project-wide variant search function. The lower portion of the page lists the following functions or summary data: (8) number of families in the project; (9) functions to search, filter, and sort through families; (10) ability to download the list of families with analysis details; (11) overview of each family with the pedigree, details of the analysis status, the user who has analyzed the case, date the data was loaded, description of the family, and overview of the saved variants. Selecting the family ID opens the Family Page; (12) colored box highlighting tagged variants and quick link to the variant search page; (13) link to the GitHub repository for bug reports or feature requests, and the option to contact the seqr team. VUS, variant of uncertain significance; WGS, whole genome sequencing