Fig. 1

CAGI6-RGP challenge overview of selected families. Summary of the 35 training set families (all solved) and 30 test set families (14 solved, 16 unsolved). Imputed population ancestry, the amount of familial sequencing data provided (proband-only, duo, trio, or quad), diagnostic status, and mode of inheritance of the causal variant(s) is displayed by family. For all returnable diagnostic variants in the solved families in each set, the functional consequence according to the Variant Effect Predictor (VEP), ClinVar and HGMD reporting status at the time of announcement of the challenge (May 3, 2021), and ACMG/AMP classification are displayed by variant. NFE, Non-Finnish European; AFR, African/African American; AMR, Admixed American; ASJ, Ashkenazi Jewish; SAS, South Asian; AD, autosomal dominant; XLR, X-linked recessive; AR, autosomal recessive; P, pathogenic; LP, likely pathogenic; VUS, variant of uncertain significance; DM, disease mutation