Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation

Figures & data

TABLE I. Diagnostic yield in large (n >100) diagnostic next-generation sequencing studies. †Diagnostic yield refers to the percentage of patients for whom a genetic variant was identified as probably causing all or some of their symptoms *not including sequenced relatives. DD, developmental delay; NGS, next-generation sequencing.

TABLE II. Diagnostic whole-genome and exome sequencing studies focused on specific neurological disorders (sample size ≥10).

TABLE III. Genome-wide association study results for common neurological and psychiatric illnesses. A larger study of 16 023 cases (9240 discovery and 6783 replication) failed to find any genome-wide significant hit.⁴⁵ GWAS, genome-wide association study.

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