Figure 1 | Genetics in Medicine

Figure 1

From: Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Figure 1

Outline of DDD variant filtering and reporting workflow. Details of thresholds are outlined in the Methods section. The entire workflow is automated until the final stage, which requires detailed clinical review of any candidate variants in light of the child’s specific developmental phenotype. DDG2P, Developmental Disorder Gene-to-Phenotype database.

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