Extended Data Table 2 The targeted monogenic conditions and prioritization assessment for screening

From: Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies

  1. 1Sequencing detection rate is the percentage of variants detectable by sequencing method among all pathogenic variants. The detection rate data were collected from GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1116/) or calculated based on literature in the Human Gene Mutation Database database (https://my.qiagendigitalinsights.com/bbp/view/hgmd/pro/search_gene.php). 2 The average gene-specific coverage meeting the minimum sequencing depth threshold (percentage of target regions with >200×) was provided. 3 Prevalence data were cited from GeneReviews, Orphanet (https://www.orpha.net/consor/cgi-bin/index.php), Online Catalog of Human Genes and Genetic Disorders (https://omim.org/), MedlinePlus (https://medlineplus.gov/) and published literature when available. 4 Clinical prioritization criteria for conditions recommended in general population screening are based on public data and the findings of this study. S: conditions with severe outcomes (for example, shortened lifespan, impaired mobility, intellectual disability, malformation, sensory impairment, immunodeficiency, etc.) and no extreme phenotypic variability. E: conditions with early onset in infancy or childhood. P: conditions with known population prevalence. Conditions with a prevalence lower than 1:100,000 are marked with * assigned with a lower priority for general population. H: a high analytical performance in the screening test. NA: not available.
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