Fig 1.
Variant and gene-disease pair selection flowchart.
Fig 2.
Aggregate fetal disease risk and utility score for 114 conditions from exome sequencing and tests.
The full list of genes and the related carrier rate and characteristics are displayed in S2 Table. a) Aggregate fetal disease risk considering only severe and profound conditions. b) Aggregate fetal disease risk with moderate conditions included.
Fig 3.
Carrier burden for autosomal and X-linked recessive highly penetrant childhood-onset disorders in the tested population.
Data include exome sequencing data from 114 included conditions and separate tests for specific genes. A) Carrier rate metrics for pathogenic (P) and likely pathogenic (LP) variants detected in the cohort of male and female IVF donors and infertile patients. B) Distribution of the number of P/LP variants detected per individual sample.
Table 1.
Couple at increased risk for autosomal and X-linked recessive conditions.
Table 2.
Detection of secondary findings from exome sequencing of 14,125 individuals.
Fig 4.
Preconception carrier screening strategies when exome sequencing is used for genetic analysis.