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Table 1 Characteristics of case cohorts. Benchmark cohort, 119 cases total. Validation cohort, 60 cases total. Grand total, 179 cases

From: Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

  Assay type Variant type Proband sex Pedigree Type
Mode of inheritance WGS WES SNV/Indel SV Male Female Single Duos Trios
Benchmark cohort
 Autosomal dominant 70 11 66 15 36 45 35 6 40
 Autosomal recessive 27 23 4 14 13 9 1 17
 X-linked dominant 6 5 1 1 5 2 4
 X-linked recessive 5 5 5 2 1 2
 Sub-totals 108 11 99 20 56 63 48 8 63
Validation cohort
 Autosomal dominant 3 34 37 10 27 15 2 20
 Autosomal recessive 1 14 15 5 10 9 6
 X-linked dominant 1 5 6 3 3 1 3 2
 X-linked recessive 2 2 2 1 1
 Sub-totals 5 55 60 0 20 40 26 5 29